SNP Links for Protein (Select 1034613826) - SNP

Select item 14906246191.

rs1490624619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:237821757 (GRCh38)
2:238730400 (GRCh37)
Canonical SPDI:: NC_000002.12:237821756:A:T
Gene:: RBM44 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237821757A>T, NC_000002.11:g.238730400A>T, NM_001080504.3:c.2135A>T, NM_001080504.2:c.2138A>T, XM_017004058.3:c.275A>T, XM_017004058.2:c.275A>T, XM_017004058.1:c.275A>T, XM_011511152.3:c.2123A>T, XM_011511152.2:c.2123A>T, XM_011511152.1:c.2123A>T, XM_011511153.3:c.2123A>T, XM_011511153.2:c.2123A>T, XM_011511153.1:c.2123A>T, XM_017004056.2:c.2123A>T, XM_017004056.1:c.2123A>T, XM_017004055.2:c.2123A>T, XM_017004055.1:c.2123A>T, XM_017004054.2:c.2123A>T, XM_017004054.1:c.2123A>T, XM_005246075.2:c.2123A>T, XM_005246075.1:c.2123A>T, XM_017004057.2:c.2123A>T, XM_017004057.1:c.2123A>T, NP_001073973.3:p.Asp712Val, XP_016859547.1:p.Asp92Val, XP_011509454.1:p.Asp708Val, XP_011509455.1:p.Asp708Val, XP_016859545.1:p.Asp708Val, XP_016859544.1:p.Asp708Val, XP_016859543.1:p.Asp708Val, XP_005246132.1:p.Asp708Val, XP_016859546.1:p.Asp708Val

Select item 14888224612.

rs1488822461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:237817150 (GRCh38)
2:238725793 (GRCh37)
Canonical SPDI:: NC_000002.12:237817149:A:G
Gene:: RBM44 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237817150A>G, NC_000002.11:g.238725793A>G, NM_001080504.3:c.231A>G, NM_001080504.2:c.234A>G, XM_011511152.3:c.234A>G, XM_011511152.2:c.234A>G, XM_011511152.1:c.234A>G, XM_011511153.3:c.234A>G, XM_011511153.2:c.234A>G, XM_011511153.1:c.234A>G, XM_017004056.2:c.234A>G, XM_017004056.1:c.234A>G, XM_017004055.2:c.234A>G, XM_017004055.1:c.234A>G, XM_017004054.2:c.234A>G, XM_017004054.1:c.234A>G, XM_005246075.2:c.234A>G, XM_005246075.1:c.234A>G, XM_017004057.2:c.234A>G, XM_017004057.1:c.234A>G

Select item 14884647323.

rs1488464732 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:237817601 (GRCh38)
2:238726244 (GRCh37)
Canonical SPDI:: NC_000002.12:237817600:T:C
Gene:: RBM44 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.237817601T>C, NC_000002.11:g.238726244T>C, NM_001080504.3:c.682T>C, NM_001080504.2:c.685T>C, XM_011511152.3:c.685T>C, XM_011511152.2:c.685T>C, XM_011511152.1:c.685T>C, XM_011511153.3:c.685T>C, XM_011511153.2:c.685T>C, XM_011511153.1:c.685T>C, XM_017004056.2:c.685T>C, XM_017004056.1:c.685T>C, XM_017004055.2:c.685T>C, XM_017004055.1:c.685T>C, XM_017004054.2:c.685T>C, XM_017004054.1:c.685T>C, XM_005246075.2:c.685T>C, XM_005246075.1:c.685T>C, XM_017004057.2:c.685T>C, XM_017004057.1:c.685T>C, NP_001073973.3:p.Cys228Arg, XP_011509454.1:p.Cys229Arg, XP_011509455.1:p.Cys229Arg, XP_016859545.1:p.Cys229Arg, XP_016859544.1:p.Cys229Arg, XP_016859543.1:p.Cys229Arg, XP_005246132.1:p.Cys229Arg, XP_016859546.1:p.Cys229Arg

Select item 14880322534.

rs1488032253 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:237817259 (GRCh38)
2:238725902 (GRCh37)
Canonical SPDI:: NC_000002.12:237817258:A:G
Gene:: RBM44 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237817259A>G, NC_000002.11:g.238725902A>G, NM_001080504.3:c.340A>G, NM_001080504.2:c.343A>G, XM_011511152.3:c.343A>G, XM_011511152.2:c.343A>G, XM_011511152.1:c.343A>G, XM_011511153.3:c.343A>G, XM_011511153.2:c.343A>G, XM_011511153.1:c.343A>G, XM_017004056.2:c.343A>G, XM_017004056.1:c.343A>G, XM_017004055.2:c.343A>G, XM_017004055.1:c.343A>G, XM_017004054.2:c.343A>G, XM_017004054.1:c.343A>G, XM_005246075.2:c.343A>G, XM_005246075.1:c.343A>G, XM_017004057.2:c.343A>G, XM_017004057.1:c.343A>G, NP_001073973.3:p.Ile114Val, XP_011509454.1:p.Ile115Val, XP_011509455.1:p.Ile115Val, XP_016859545.1:p.Ile115Val, XP_016859544.1:p.Ile115Val, XP_016859543.1:p.Ile115Val, XP_005246132.1:p.Ile115Val, XP_016859546.1:p.Ile115Val

Select item 14859565515.

rs1485956551 [Homo sapiens]

Variant type:: DEL
Alleles:: AAT>- [Show Flanks]
Chromosome:: 2:237818419 (GRCh38)
2:238727062 (GRCh37)
Canonical SPDI:: NC_000002.12:237818418:AAT:
Gene:: RBM44 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.237818419_237818421del, NC_000002.11:g.238727062_238727064del, NM_001080504.3:c.1500_1502del, NM_001080504.2:c.1503_1505del, XM_011511152.3:c.1503_1505del, XM_011511152.2:c.1503_1505del, XM_011511152.1:c.1503_1505del, XM_011511153.3:c.1503_1505del, XM_011511153.2:c.1503_1505del, XM_011511153.1:c.1503_1505del, XM_017004056.2:c.1503_1505del, XM_017004056.1:c.1503_1505del, XM_017004055.2:c.1503_1505del, XM_017004055.1:c.1503_1505del, XM_017004054.2:c.1503_1505del, XM_017004054.1:c.1503_1505del, XM_005246075.2:c.1503_1505del, XM_005246075.1:c.1503_1505del, XM_017004057.2:c.1503_1505del, XM_017004057.1:c.1503_1505del, NP_001073973.3:p.Met502del, XP_011509454.1:p.Met503del, XP_011509455.1:p.Met503del, XP_016859545.1:p.Met503del, XP_016859544.1:p.Met503del, XP_016859543.1:p.Met503del, XP_005246132.1:p.Met503del, XP_016859546.1:p.Met503del

Select item 14836025726.

rs1483602572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:237817013 (GRCh38)
2:238725656 (GRCh37)
Canonical SPDI:: NC_000002.12:237817012:A:G
Gene:: RBM44 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.237817013A>G, NC_000002.11:g.238725656A>G, NM_001080504.3:c.94A>G, NM_001080504.2:c.97A>G, XM_011511152.3:c.97A>G, XM_011511152.2:c.97A>G, XM_011511152.1:c.97A>G, XM_011511153.3:c.97A>G, XM_011511153.2:c.97A>G, XM_011511153.1:c.97A>G, XM_017004056.2:c.97A>G, XM_017004056.1:c.97A>G, XM_017004055.2:c.97A>G, XM_017004055.1:c.97A>G, XM_017004054.2:c.97A>G, XM_017004054.1:c.97A>G, XM_005246075.2:c.97A>G, XM_005246075.1:c.97A>G, XM_017004057.2:c.97A>G, XM_017004057.1:c.97A>G, NP_001073973.3:p.Lys32Glu, XP_011509454.1:p.Lys33Glu, XP_011509455.1:p.Lys33Glu, XP_016859545.1:p.Lys33Glu, XP_016859544.1:p.Lys33Glu, XP_016859543.1:p.Lys33Glu, XP_005246132.1:p.Lys33Glu, XP_016859546.1:p.Lys33Glu

Select item 14835255597.

rs1483525559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237823467 (GRCh38)
2:238732110 (GRCh37)
Canonical SPDI:: NC_000002.12:237823466:G:A
Gene:: RBM44 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000002.12:g.237823467G>A, NC_000002.11:g.238732110G>A, NM_001080504.3:c.2233G>A, NM_001080504.2:c.2236G>A, XM_017004058.3:c.373G>A, XM_017004058.2:c.373G>A, XM_017004058.1:c.373G>A, XM_011511152.3:c.2221G>A, XM_011511152.2:c.2221G>A, XM_011511152.1:c.2221G>A, XM_011511153.3:c.2221G>A, XM_011511153.2:c.2221G>A, XM_011511153.1:c.2221G>A, XM_017004056.2:c.2221G>A, XM_017004056.1:c.2221G>A, XM_017004055.2:c.2221G>A, XM_017004055.1:c.2221G>A, XM_017004054.2:c.2221G>A, XM_017004054.1:c.2221G>A, XM_005246075.2:c.2221G>A, XM_005246075.1:c.2221G>A, XM_017004057.2:c.2221G>A, XM_017004057.1:c.2221G>A, NP_001073973.3:p.Ala745Thr, XP_016859547.1:p.Ala125Thr, XP_011509454.1:p.Ala741Thr, XP_011509455.1:p.Ala741Thr, XP_016859545.1:p.Ala741Thr, XP_016859544.1:p.Ala741Thr, XP_016859543.1:p.Ala741Thr, XP_005246132.1:p.Ala741Thr, XP_016859546.1:p.Ala741Thr

Select item 14802226728.

rs1480222672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:237817738 (GRCh38)
2:238726381 (GRCh37)
Canonical SPDI:: NC_000002.12:237817737:T:C
Gene:: RBM44 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.237817738T>C, NC_000002.11:g.238726381T>C, NM_001080504.3:c.819T>C, NM_001080504.2:c.822T>C, XM_011511152.3:c.822T>C, XM_011511152.2:c.822T>C, XM_011511152.1:c.822T>C, XM_011511153.3:c.822T>C, XM_011511153.2:c.822T>C, XM_011511153.1:c.822T>C, XM_017004056.2:c.822T>C, XM_017004056.1:c.822T>C, XM_017004055.2:c.822T>C, XM_017004055.1:c.822T>C, XM_017004054.2:c.822T>C, XM_017004054.1:c.822T>C, XM_005246075.2:c.822T>C, XM_005246075.1:c.822T>C, XM_017004057.2:c.822T>C, XM_017004057.1:c.822T>C

Select item 14780464369.

rs1478046436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:237817532 (GRCh38)
2:238726175 (GRCh37)
Canonical SPDI:: NC_000002.12:237817531:C:A,NC_000002.12:237817531:C:G
Gene:: RBM44 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237817532C>A, NC_000002.12:g.237817532C>G, NC_000002.11:g.238726175C>A, NC_000002.11:g.238726175C>G, NM_001080504.3:c.613C>A, NM_001080504.3:c.613C>G, NM_001080504.2:c.616C>A, NM_001080504.2:c.616C>G, XM_011511152.3:c.616C>A, XM_011511152.3:c.616C>G, XM_011511152.2:c.616C>A, XM_011511152.2:c.616C>G, XM_011511152.1:c.616C>A, XM_011511152.1:c.616C>G, XM_011511153.3:c.616C>A, XM_011511153.3:c.616C>G, XM_011511153.2:c.616C>A, XM_011511153.2:c.616C>G, XM_011511153.1:c.616C>A, XM_011511153.1:c.616C>G, XM_017004056.2:c.616C>A, XM_017004056.2:c.616C>G, XM_017004056.1:c.616C>A, XM_017004056.1:c.616C>G, XM_017004055.2:c.616C>A, XM_017004055.2:c.616C>G, XM_017004055.1:c.616C>A, XM_017004055.1:c.616C>G, XM_017004054.2:c.616C>A, XM_017004054.2:c.616C>G, XM_017004054.1:c.616C>A, XM_017004054.1:c.616C>G, XM_005246075.2:c.616C>A, XM_005246075.2:c.616C>G, XM_005246075.1:c.616C>A, XM_005246075.1:c.616C>G, XM_017004057.2:c.616C>A, XM_017004057.2:c.616C>G, XM_017004057.1:c.616C>A, XM_017004057.1:c.616C>G, NP_001073973.3:p.Gln205Lys, NP_001073973.3:p.Gln205Glu, XP_011509454.1:p.Gln206Lys, XP_011509454.1:p.Gln206Glu, XP_011509455.1:p.Gln206Lys, XP_011509455.1:p.Gln206Glu, XP_016859545.1:p.Gln206Lys, XP_016859545.1:p.Gln206Glu, XP_016859544.1:p.Gln206Lys, XP_016859544.1:p.Gln206Glu, XP_016859543.1:p.Gln206Lys, XP_016859543.1:p.Gln206Glu, XP_005246132.1:p.Gln206Lys, XP_005246132.1:p.Gln206Glu, XP_016859546.1:p.Gln206Lys, XP_016859546.1:p.Gln206Glu

Select item 147777927110.

rs1477779271 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:237817157 (GRCh38)
2:238725800 (GRCh37)
Canonical SPDI:: NC_000002.12:237817156:TTTTTTT:TTTTTT
Gene:: RBM44 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.237817163del, NC_000002.11:g.238725806del, NM_001080504.3:c.244del, NM_001080504.2:c.247del, XM_011511152.3:c.247del, XM_011511152.2:c.247del, XM_011511152.1:c.247del, XM_011511153.3:c.247del, XM_011511153.2:c.247del, XM_011511153.1:c.247del, XM_017004056.2:c.247del, XM_017004056.1:c.247del, XM_017004055.2:c.247del, XM_017004055.1:c.247del, XM_017004054.2:c.247del, XM_017004054.1:c.247del, XM_005246075.2:c.247del, XM_005246075.1:c.247del, XM_017004057.2:c.247del, XM_017004057.1:c.247del, NP_001073973.3:p.Ser82fs, XP_011509454.1:p.Ser83fs, XP_011509455.1:p.Ser83fs, XP_016859545.1:p.Ser83fs, XP_016859544.1:p.Ser83fs, XP_016859543.1:p.Ser83fs, XP_005246132.1:p.Ser83fs, XP_016859546.1:p.Ser83fs

Select item 147699477011.

rs1476994770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:237818295 (GRCh38)
2:238726938 (GRCh37)
Canonical SPDI:: NC_000002.12:237818294:G:C
Gene:: RBM44 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237818295G>C, NC_000002.11:g.238726938G>C, NM_001080504.3:c.1376G>C, NM_001080504.2:c.1379G>C, XM_011511152.3:c.1379G>C, XM_011511152.2:c.1379G>C, XM_011511152.1:c.1379G>C, XM_011511153.3:c.1379G>C, XM_011511153.2:c.1379G>C, XM_011511153.1:c.1379G>C, XM_017004056.2:c.1379G>C, XM_017004056.1:c.1379G>C, XM_017004055.2:c.1379G>C, XM_017004055.1:c.1379G>C, XM_017004054.2:c.1379G>C, XM_017004054.1:c.1379G>C, XM_005246075.2:c.1379G>C, XM_005246075.1:c.1379G>C, XM_017004057.2:c.1379G>C, XM_017004057.1:c.1379G>C, NP_001073973.3:p.Ser459Thr, XP_011509454.1:p.Ser460Thr, XP_011509455.1:p.Ser460Thr, XP_016859545.1:p.Ser460Thr, XP_016859544.1:p.Ser460Thr, XP_016859543.1:p.Ser460Thr, XP_005246132.1:p.Ser460Thr, XP_016859546.1:p.Ser460Thr

Select item 147585630212.

rs1475856302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:237818420 (GRCh38)
2:238727063 (GRCh37)
Canonical SPDI:: NC_000002.12:237818419:A:G
Gene:: RBM44 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237818420A>G, NC_000002.11:g.238727063A>G, NM_001080504.3:c.1501A>G, NM_001080504.2:c.1504A>G, XM_011511152.3:c.1504A>G, XM_011511152.2:c.1504A>G, XM_011511152.1:c.1504A>G, XM_011511153.3:c.1504A>G, XM_011511153.2:c.1504A>G, XM_011511153.1:c.1504A>G, XM_017004056.2:c.1504A>G, XM_017004056.1:c.1504A>G, XM_017004055.2:c.1504A>G, XM_017004055.1:c.1504A>G, XM_017004054.2:c.1504A>G, XM_017004054.1:c.1504A>G, XM_005246075.2:c.1504A>G, XM_005246075.1:c.1504A>G, XM_017004057.2:c.1504A>G, XM_017004057.1:c.1504A>G, NP_001073973.3:p.Met501Val, XP_011509454.1:p.Met502Val, XP_011509455.1:p.Met502Val, XP_016859545.1:p.Met502Val, XP_016859544.1:p.Met502Val, XP_016859543.1:p.Met502Val, XP_005246132.1:p.Met502Val, XP_016859546.1:p.Met502Val

Select item 147574288913.

rs1475742889 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:237821182 (GRCh38)
2:238729826 (GRCh37)
Canonical SPDI:: NC_000002.12:237821182:CC:CCC
Gene:: RBM44 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237821184dup, NC_000002.11:g.238729827dup, NM_001080504.3:c.2027dup, NM_001080504.2:c.2030dup, XM_017004058.3:c.167dup, XM_017004058.2:c.167dup, XM_017004058.1:c.167dup, XM_011511152.3:c.2015dup, XM_011511152.2:c.2015dup, XM_011511152.1:c.2015dup, XM_011511153.3:c.2015dup, XM_011511153.2:c.2015dup, XM_011511153.1:c.2015dup, XM_017004056.2:c.2015dup, XM_017004056.1:c.2015dup, XM_017004055.2:c.2015dup, XM_017004055.1:c.2015dup, XM_017004054.2:c.2015dup, XM_017004054.1:c.2015dup, XM_005246075.2:c.2015dup, XM_005246075.1:c.2015dup, XM_017004057.2:c.2015dup, XM_017004057.1:c.2015dup, NP_001073973.3:p.Leu677fs, XP_016859547.1:p.Leu57fs, XP_011509454.1:p.Leu673fs, XP_011509455.1:p.Leu673fs, XP_016859545.1:p.Leu673fs, XP_016859544.1:p.Leu673fs, XP_016859543.1:p.Leu673fs, XP_005246132.1:p.Leu673fs, XP_016859546.1:p.Leu673fs

Select item 147106747314.

rs1471067473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:237818237 (GRCh38)
2:238726880 (GRCh37)
Canonical SPDI:: NC_000002.12:237818236:A:G
Gene:: RBM44 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237818237A>G, NC_000002.11:g.238726880A>G, NM_001080504.3:c.1318A>G, NM_001080504.2:c.1321A>G, XM_011511152.3:c.1321A>G, XM_011511152.2:c.1321A>G, XM_011511152.1:c.1321A>G, XM_011511153.3:c.1321A>G, XM_011511153.2:c.1321A>G, XM_011511153.1:c.1321A>G, XM_017004056.2:c.1321A>G, XM_017004056.1:c.1321A>G, XM_017004055.2:c.1321A>G, XM_017004055.1:c.1321A>G, XM_017004054.2:c.1321A>G, XM_017004054.1:c.1321A>G, XM_005246075.2:c.1321A>G, XM_005246075.1:c.1321A>G, XM_017004057.2:c.1321A>G, XM_017004057.1:c.1321A>G, NP_001073973.3:p.Lys440Glu, XP_011509454.1:p.Lys441Glu, XP_011509455.1:p.Lys441Glu, XP_016859545.1:p.Lys441Glu, XP_016859544.1:p.Lys441Glu, XP_016859543.1:p.Lys441Glu, XP_005246132.1:p.Lys441Glu, XP_016859546.1:p.Lys441Glu

Select item 147026183215.

rs1470261832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:237817852 (GRCh38)
2:238726495 (GRCh37)
Canonical SPDI:: NC_000002.12:237817851:T:A
Gene:: RBM44 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00071/10 (ALFA)
HGVS:: NC_000002.12:g.237817852T>A, NC_000002.11:g.238726495T>A, NM_001080504.3:c.933T>A, NM_001080504.2:c.936T>A, XM_011511152.3:c.936T>A, XM_011511152.2:c.936T>A, XM_011511152.1:c.936T>A, XM_011511153.3:c.936T>A, XM_011511153.2:c.936T>A, XM_011511153.1:c.936T>A, XM_017004056.2:c.936T>A, XM_017004056.1:c.936T>A, XM_017004055.2:c.936T>A, XM_017004055.1:c.936T>A, XM_017004054.2:c.936T>A, XM_017004054.1:c.936T>A, XM_005246075.2:c.936T>A, XM_005246075.1:c.936T>A, XM_017004057.2:c.936T>A, XM_017004057.1:c.936T>A

Select item 146848692616.

rs1468486926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:237823484 (GRCh38)
2:238732127 (GRCh37)
Canonical SPDI:: NC_000002.12:237823483:A:T
Gene:: RBM44 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
HGVS:: NC_000002.12:g.237823484A>T, NC_000002.11:g.238732127A>T, NM_001080504.3:c.2250A>T, NM_001080504.2:c.2253A>T, XM_017004058.3:c.390A>T, XM_017004058.2:c.390A>T, XM_017004058.1:c.390A>T, XM_011511152.3:c.2238A>T, XM_011511152.2:c.2238A>T, XM_011511152.1:c.2238A>T, XM_011511153.3:c.2238A>T, XM_011511153.2:c.2238A>T, XM_011511153.1:c.2238A>T, XM_017004056.2:c.2238A>T, XM_017004056.1:c.2238A>T, XM_017004055.2:c.2238A>T, XM_017004055.1:c.2238A>T, XM_017004054.2:c.2238A>T, XM_017004054.1:c.2238A>T, XM_005246075.2:c.2238A>T, XM_005246075.1:c.2238A>T, XM_017004057.2:c.2238A>T, XM_017004057.1:c.2238A>T

Select item 146840435917.

rs1468404359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237820289 (GRCh38)
2:238728932 (GRCh37)
Canonical SPDI:: NC_000002.12:237820288:G:A
Gene:: RBM44 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.237820289G>A, NC_000002.11:g.238728932G>A, NM_001080504.3:c.1851G>A, NM_001080504.2:c.1854G>A, XM_011511152.3:c.1854G>A, XM_011511152.2:c.1854G>A, XM_011511152.1:c.1854G>A, XM_011511153.3:c.1854G>A, XM_011511153.2:c.1854G>A, XM_011511153.1:c.1854G>A, XM_017004056.2:c.1854G>A, XM_017004056.1:c.1854G>A, XM_017004055.2:c.1854G>A, XM_017004055.1:c.1854G>A, XM_017004054.2:c.1854G>A, XM_017004054.1:c.1854G>A, XM_005246075.2:c.1854G>A, XM_005246075.1:c.1854G>A, XM_017004057.2:c.1854G>A, XM_017004057.1:c.1854G>A, NP_001073973.3:p.Met617Ile, XP_011509454.1:p.Met618Ile, XP_011509455.1:p.Met618Ile, XP_016859545.1:p.Met618Ile, XP_016859544.1:p.Met618Ile, XP_016859543.1:p.Met618Ile, XP_005246132.1:p.Met618Ile, XP_016859546.1:p.Met618Ile

Select item 146788374918.

rs1467883749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:237818107 (GRCh38)
2:238726750 (GRCh37)
Canonical SPDI:: NC_000002.12:237818106:T:C
Gene:: RBM44 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.237818107T>C, NC_000002.11:g.238726750T>C, NM_001080504.3:c.1188T>C, NM_001080504.2:c.1191T>C, XM_011511152.3:c.1191T>C, XM_011511152.2:c.1191T>C, XM_011511152.1:c.1191T>C, XM_011511153.3:c.1191T>C, XM_011511153.2:c.1191T>C, XM_011511153.1:c.1191T>C, XM_017004056.2:c.1191T>C, XM_017004056.1:c.1191T>C, XM_017004055.2:c.1191T>C, XM_017004055.1:c.1191T>C, XM_017004054.2:c.1191T>C, XM_017004054.1:c.1191T>C, XM_005246075.2:c.1191T>C, XM_005246075.1:c.1191T>C, XM_017004057.2:c.1191T>C, XM_017004057.1:c.1191T>C

Select item 146699672619.

rs1466996726 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:237817020 (GRCh38)
2:238725663 (GRCh37)
Canonical SPDI:: NC_000002.12:237817019:A:C
Gene:: RBM44 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
HGVS:: NC_000002.12:g.237817020A>C, NC_000002.11:g.238725663A>C, NM_001080504.3:c.101A>C, NM_001080504.2:c.104A>C, XM_011511152.3:c.104A>C, XM_011511152.2:c.104A>C, XM_011511152.1:c.104A>C, XM_011511153.3:c.104A>C, XM_011511153.2:c.104A>C, XM_011511153.1:c.104A>C, XM_017004056.2:c.104A>C, XM_017004056.1:c.104A>C, XM_017004055.2:c.104A>C, XM_017004055.1:c.104A>C, XM_017004054.2:c.104A>C, XM_017004054.1:c.104A>C, XM_005246075.2:c.104A>C, XM_005246075.1:c.104A>C, XM_017004057.2:c.104A>C, XM_017004057.1:c.104A>C, NP_001073973.3:p.Asn34Thr, XP_011509454.1:p.Asn35Thr, XP_011509455.1:p.Asn35Thr, XP_016859545.1:p.Asn35Thr, XP_016859544.1:p.Asn35Thr, XP_016859543.1:p.Asn35Thr, XP_005246132.1:p.Asn35Thr, XP_016859546.1:p.Asn35Thr

Select item 146632320920.

rs1466323209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:237817458 (GRCh38)
2:238726101 (GRCh37)
Canonical SPDI:: NC_000002.12:237817457:C:T
Gene:: RBM44 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237817458C>T, NC_000002.11:g.238726101C>T, NM_001080504.3:c.539C>T, NM_001080504.2:c.542C>T, XM_011511152.3:c.542C>T, XM_011511152.2:c.542C>T, XM_011511152.1:c.542C>T, XM_011511153.3:c.542C>T, XM_011511153.2:c.542C>T, XM_011511153.1:c.542C>T, XM_017004056.2:c.542C>T, XM_017004056.1:c.542C>T, XM_017004055.2:c.542C>T, XM_017004055.1:c.542C>T, XM_017004054.2:c.542C>T, XM_017004054.1:c.542C>T, XM_005246075.2:c.542C>T, XM_005246075.1:c.542C>T, XM_017004057.2:c.542C>T, XM_017004057.1:c.542C>T, NP_001073973.3:p.Thr180Ile, XP_011509454.1:p.Thr181Ile, XP_011509455.1:p.Thr181Ile, XP_016859545.1:p.Thr181Ile, XP_016859544.1:p.Thr181Ile, XP_016859543.1:p.Thr181Ile, XP_005246132.1:p.Thr181Ile, XP_016859546.1:p.Thr181Ile

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 711

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 711

Page of 36

Page of 36

Display Settings:

Supplemental Content

Find related data

Recent activity