SNP Links for Protein (Select 556695441) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 702

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Select item 14878541781.

rs1487854178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219242866 (GRCh38)
2:220107588 (GRCh37)
Canonical SPDI:: NC_000002.12:219242865:C:T
Gene:: GLB1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219242866C>T, NC_000002.11:g.220107588C>T, NM_024506.5:c.292G>A, NM_024506.4:c.292G>A, NM_024506.3:c.292G>A, XM_024453137.2:c.292G>A, XM_024453137.1:c.292G>A, XM_024453138.2:c.292G>A, XM_024453138.1:c.292G>A, NM_001286423.2:c.292G>A, NM_001286423.1:c.292G>A, XM_017004895.2:c.292G>A, XM_017004895.1:c.292G>A, XM_047445814.1:c.292G>A, XM_047445815.1:c.292G>A, NM_001286427.1:c.292G>A, NP_078782.3:p.Gly98Ser, XP_024308905.1:p.Gly98Ser, XP_024308906.1:p.Gly98Ser, NP_001273352.1:p.Gly98Ser, XP_016860384.1:p.Gly98Ser, XP_047301770.1:p.Gly98Ser, XP_047301771.1:p.Gly98Ser, NP_001273356.1:p.Gly98Ser

Select item 14849798982.

rs1484979898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219240031 (GRCh38)
2:220104753 (GRCh37)
Canonical SPDI:: NC_000002.12:219240030:G:A
Gene:: GLB1L (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219240031G>A, NC_000002.11:g.220104753G>A, NM_024506.5:c.610C>T, NM_024506.4:c.610C>T, NM_024506.3:c.610C>T, XM_024453137.2:c.610C>T, XM_024453137.1:c.610C>T, NM_001286423.2:c.610C>T, NM_001286423.1:c.610C>T, XM_047445814.1:c.610C>T, NP_078782.3:p.Leu204Phe, XP_024308905.1:p.Leu204Phe, NP_001273352.1:p.Leu204Phe, XP_047301770.1:p.Leu204Phe

Select item 14839830983.

rs1483983098 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219237599 (GRCh38)
2:220102321 (GRCh37)
Canonical SPDI:: NC_000002.12:219237598:A:G
Gene:: GLB1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219237599A>G, NC_000002.11:g.220102321A>G, NM_024506.5:c.1602T>C, NM_024506.4:c.1602T>C, NM_024506.3:c.1602T>C, XM_024453137.2:c.1602T>C, XM_024453137.1:c.1602T>C, XM_024453138.2:c.1332T>C, XM_024453138.1:c.1332T>C, NM_001286423.2:c.1602T>C, NM_001286423.1:c.1602T>C, XM_017004895.2:c.1332T>C, XM_017004895.1:c.1332T>C, XM_047445814.1:c.1602T>C, XM_047445815.1:c.1332T>C, NM_001286427.1:c.1332T>C, XM_047445816.1:c.873T>C

Select item 14837315134.

rs1483731513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219243166 (GRCh38)
2:220107888 (GRCh37)
Canonical SPDI:: NC_000002.12:219243165:C:T
Gene:: GLB1L (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.219243166C>T, NC_000002.11:g.220107888C>T, NM_024506.5:c.221G>A, NM_024506.4:c.221G>A, NM_024506.3:c.221G>A, XM_024453137.2:c.221G>A, XM_024453137.1:c.221G>A, XM_024453138.2:c.221G>A, XM_024453138.1:c.221G>A, NM_001286423.2:c.221G>A, NM_001286423.1:c.221G>A, XM_017004895.2:c.221G>A, XM_017004895.1:c.221G>A, XM_047445814.1:c.221G>A, XM_047445815.1:c.221G>A, NM_001286427.1:c.221G>A, NP_078782.3:p.Gly74Asp, XP_024308905.1:p.Gly74Asp, XP_024308906.1:p.Gly74Asp, NP_001273352.1:p.Gly74Asp, XP_016860384.1:p.Gly74Asp, XP_047301770.1:p.Gly74Asp, XP_047301771.1:p.Gly74Asp, NP_001273356.1:p.Gly74Asp

Select item 14834354875.

rs1483435487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219242854 (GRCh38)
2:220107576 (GRCh37)
Canonical SPDI:: NC_000002.12:219242853:G:A
Gene:: GLB1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.219242854G>A, NC_000002.11:g.220107576G>A, NM_024506.5:c.304C>T, NM_024506.4:c.304C>T, NM_024506.3:c.304C>T, XM_024453137.2:c.304C>T, XM_024453137.1:c.304C>T, XM_024453138.2:c.304C>T, XM_024453138.1:c.304C>T, NM_001286423.2:c.304C>T, NM_001286423.1:c.304C>T, XM_017004895.2:c.304C>T, XM_017004895.1:c.304C>T, XM_047445814.1:c.304C>T, XM_047445815.1:c.304C>T, NM_001286427.1:c.304C>T, NP_078782.3:p.Leu102Phe, XP_024308905.1:p.Leu102Phe, XP_024308906.1:p.Leu102Phe, NP_001273352.1:p.Leu102Phe, XP_016860384.1:p.Leu102Phe, XP_047301770.1:p.Leu102Phe, XP_047301771.1:p.Leu102Phe, NP_001273356.1:p.Leu102Phe

Select item 14819948586.

rs1481994858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219242789 (GRCh38)
2:220107511 (GRCh37)
Canonical SPDI:: NC_000002.12:219242788:G:A
Gene:: GLB1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000016/4 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.219242789G>A, NC_000002.11:g.220107511G>A, NM_024506.5:c.369C>T, NM_024506.4:c.369C>T, NM_024506.3:c.369C>T, XM_024453137.2:c.369C>T, XM_024453137.1:c.369C>T, XM_024453138.2:c.369C>T, XM_024453138.1:c.369C>T, NM_001286423.2:c.369C>T, NM_001286423.1:c.369C>T, XM_017004895.2:c.369C>T, XM_017004895.1:c.369C>T, XM_047445814.1:c.369C>T, XM_047445815.1:c.369C>T, NM_001286427.1:c.369C>T

Select item 14802457717.

rs1480245771 has merged into rs780866249 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 2:219242570 (GRCh38)
2:220107292 (GRCh37)
Canonical SPDI:: NC_000002.12:219242569:CCCCCC:CCCCC,NC_000002.12:219242569:CCCCCC:CCCCCCC
Gene:: GLB1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,splice_acceptor_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0.000162/3 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000025/3 (ExAC)
-=0.000036/5 (GnomAD)
-=0.00067/3 (Estonian)
HGVS:: NC_000002.12:g.219242575del, NC_000002.12:g.219242575dup, NC_000002.11:g.220107297del, NC_000002.11:g.220107297dup

Select item 14779744928.

rs1477974492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219239168 (GRCh38)
2:220103890 (GRCh37)
Canonical SPDI:: NC_000002.12:219239167:T:C
Gene:: GLB1L (Varview)
Functional Consequence:: missense_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.219239168T>C, NC_000002.11:g.220103890T>C, NM_024506.5:c.986A>G, NM_024506.4:c.986A>G, NM_024506.3:c.986A>G, XM_024453137.2:c.986A>G, XM_024453137.1:c.986A>G, XM_024453138.2:c.716A>G, XM_024453138.1:c.716A>G, NM_001286423.2:c.986A>G, NM_001286423.1:c.986A>G, XM_017004895.2:c.716A>G, XM_017004895.1:c.716A>G, XM_047445814.1:c.986A>G, XM_047445815.1:c.716A>G, NM_001286427.1:c.716A>G, XM_047445816.1:c.257A>G, NP_078782.3:p.Tyr329Cys, XP_024308905.1:p.Tyr329Cys, XP_024308906.1:p.Tyr239Cys, NP_001273352.1:p.Tyr329Cys, XP_016860384.1:p.Tyr239Cys, XP_047301770.1:p.Tyr329Cys, XP_047301771.1:p.Tyr239Cys, NP_001273356.1:p.Tyr239Cys, XP_047301772.1:p.Tyr86Cys

Select item 14777589099.

rs1477758909 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:219237326 (GRCh38)
2:220102048 (GRCh37)
Canonical SPDI:: NC_000002.12:219237325:AC:
Gene:: GLB1L (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219237326_219237327del, NC_000002.11:g.220102048_220102049del, NM_024506.5:c.1710_1711del, NM_024506.4:c.1710_1711del, NM_024506.3:c.1710_1711del, XM_024453137.2:c.1710_1711del, XM_024453137.1:c.1710_1711del, XM_024453138.2:c.1440_1441del, XM_024453138.1:c.1440_1441del, NM_001286423.2:c.1710_1711del, NM_001286423.1:c.1710_1711del, XM_017004895.2:c.1440_1441del, XM_017004895.1:c.1440_1441del, XM_047445814.1:c.1710_1711del, XM_047445815.1:c.1440_1441del, NM_001286427.1:c.1440_1441del, XM_047445816.1:c.981_982del, NP_078782.3:p.Gly570_Phe571insTer, XP_024308905.1:p.Gly570_Phe571insTer, XP_024308906.1:p.Gly480_Phe481insTer, NP_001273352.1:p.Gly570_Phe571insTer, XP_016860384.1:p.Gly480_Phe481insTer, XP_047301770.1:p.Gly570_Phe571insTer, XP_047301771.1:p.Gly480_Phe481insTer, NP_001273356.1:p.Gly480_Phe481insTer, XP_047301772.1:p.Gly327_Phe328insTer

Select item 147730166010.

rs1477301660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219238330 (GRCh38)
2:220103052 (GRCh37)
Canonical SPDI:: NC_000002.12:219238329:T:C
Gene:: GLB1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.219238330T>C, NC_000002.11:g.220103052T>C, NM_024506.5:c.1261A>G, NM_024506.4:c.1261A>G, NM_024506.3:c.1261A>G, XM_024453137.2:c.1261A>G, XM_024453137.1:c.1261A>G, XM_024453138.2:c.991A>G, XM_024453138.1:c.991A>G, NM_001286423.2:c.1261A>G, NM_001286423.1:c.1261A>G, XM_017004895.2:c.991A>G, XM_017004895.1:c.991A>G, XM_047445814.1:c.1261A>G, XM_047445815.1:c.991A>G, NM_001286427.1:c.991A>G, XM_047445816.1:c.532A>G, NP_078782.3:p.Thr421Ala, XP_024308905.1:p.Thr421Ala, XP_024308906.1:p.Thr331Ala, NP_001273352.1:p.Thr421Ala, XP_016860384.1:p.Thr331Ala, XP_047301770.1:p.Thr421Ala, XP_047301771.1:p.Thr331Ala, NP_001273356.1:p.Thr331Ala, XP_047301772.1:p.Thr178Ala

Select item 147693765211.

rs1476937652 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219243170 (GRCh38)
2:220107892 (GRCh37)
Canonical SPDI:: NC_000002.12:219243169:T:C
Gene:: GLB1L (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=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.219243170T>C, NC_000002.11:g.220107892T>C, NM_024506.5:c.217A>G, NM_024506.4:c.217A>G, NM_024506.3:c.217A>G, XM_024453137.2:c.217A>G, XM_024453137.1:c.217A>G, XM_024453138.2:c.217A>G, XM_024453138.1:c.217A>G, NM_001286423.2:c.217A>G, NM_001286423.1:c.217A>G, XM_017004895.2:c.217A>G, XM_017004895.1:c.217A>G, XM_047445814.1:c.217A>G, XM_047445815.1:c.217A>G, NM_001286427.1:c.217A>G, NP_078782.3:p.Ser73Gly, XP_024308905.1:p.Ser73Gly, XP_024308906.1:p.Ser73Gly, NP_001273352.1:p.Ser73Gly, XP_016860384.1:p.Ser73Gly, XP_047301770.1:p.Ser73Gly, XP_047301771.1:p.Ser73Gly, NP_001273356.1:p.Ser73Gly

Select item 147325905912.

rs1473259059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:219237167 (GRCh38)
2:220101889 (GRCh37)
Canonical SPDI:: NC_000002.12:219237166:G:C
Gene:: ANKZF1 (Varview), GLB1L (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000012/3 (GnomAD_exomes)
C=0.000708/12 (TOMMO)
C=0.001092/2 (Korea1K)
HGVS:: NC_000002.12:g.219237167G>C, NC_000002.11:g.220101889G>C, NM_024506.5:c.1870C>G, NM_024506.4:c.1870C>G, NM_024506.3:c.1870C>G, XM_024453137.2:c.1870C>G, XM_024453137.1:c.1870C>G, XM_024453138.2:c.1600C>G, XM_024453138.1:c.1600C>G, NM_001286423.2:c.1870C>G, NM_001286423.1:c.1870C>G, XM_017004895.2:c.1600C>G, XM_017004895.1:c.1600C>G, XM_047445814.1:c.1870C>G, XM_047445815.1:c.1600C>G, NM_001286427.1:c.1600C>G, XM_047445816.1:c.1141C>G, NP_078782.3:p.Leu624Val, XP_024308905.1:p.Leu624Val, XP_024308906.1:p.Leu534Val, NP_001273352.1:p.Leu624Val, XP_016860384.1:p.Leu534Val, XP_047301770.1:p.Leu624Val, XP_047301771.1:p.Leu534Val, NP_001273356.1:p.Leu534Val, XP_047301772.1:p.Leu381Val

Select item 147294029713.

rs1472940297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:219242797 (GRCh38)
2:220107519 (GRCh37)
Canonical SPDI:: NC_000002.12:219242796:C:G
Gene:: GLB1L (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.219242797C>G, NC_000002.11:g.220107519C>G, NM_024506.5:c.361G>C, NM_024506.4:c.361G>C, NM_024506.3:c.361G>C, XM_024453137.2:c.361G>C, XM_024453137.1:c.361G>C, XM_024453138.2:c.361G>C, XM_024453138.1:c.361G>C, NM_001286423.2:c.361G>C, NM_001286423.1:c.361G>C, XM_017004895.2:c.361G>C, XM_017004895.1:c.361G>C, XM_047445814.1:c.361G>C, XM_047445815.1:c.361G>C, NM_001286427.1:c.361G>C, NP_078782.3:p.Gly121Arg, XP_024308905.1:p.Gly121Arg, XP_024308906.1:p.Gly121Arg, NP_001273352.1:p.Gly121Arg, XP_016860384.1:p.Gly121Arg, XP_047301770.1:p.Gly121Arg, XP_047301771.1:p.Gly121Arg, NP_001273356.1:p.Gly121Arg

Select item 147254626914.

rs1472546269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219237074 (GRCh38)
2:220101796 (GRCh37)
Canonical SPDI:: NC_000002.12:219237073:A:G
Gene:: ANKZF1 (Varview), GLB1L (Varview)
Functional Consequence:: terminator_codon_variant,downstream_transcript_variant,500B_downstream_variant,stop_lost
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219237074A>G, NC_000002.11:g.220101796A>G, NM_024506.5:c.1963T>C, NM_024506.4:c.1963T>C, NM_024506.3:c.1963T>C, XM_024453137.2:c.1963T>C, XM_024453137.1:c.1963T>C, XM_024453138.2:c.1693T>C, XM_024453138.1:c.1693T>C, NM_001286423.2:c.1963T>C, NM_001286423.1:c.1963T>C, XM_017004895.2:c.1693T>C, XM_017004895.1:c.1693T>C, XM_047445814.1:c.1963T>C, XM_047445815.1:c.1693T>C, NM_001286427.1:c.1693T>C, XM_047445816.1:c.1234T>C, NP_078782.3:p.Ter655Arg, XP_024308905.1:p.Ter655Arg, XP_024308906.1:p.Ter565Arg, NP_001273352.1:p.Ter655Arg, XP_016860384.1:p.Ter565Arg, XP_047301770.1:p.Ter655Arg, XP_047301771.1:p.Ter565Arg, NP_001273356.1:p.Ter565Arg, XP_047301772.1:p.Ter412Arg

Select item 147115226315.

rs1471152263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219240037 (GRCh38)
2:220104759 (GRCh37)
Canonical SPDI:: NC_000002.12:219240036:C:T
Gene:: GLB1L (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219240037C>T, NC_000002.11:g.220104759C>T, NM_024506.5:c.604G>A, NM_024506.4:c.604G>A, NM_024506.3:c.604G>A, XM_024453137.2:c.604G>A, XM_024453137.1:c.604G>A, NM_001286423.2:c.604G>A, NM_001286423.1:c.604G>A, XM_047445814.1:c.604G>A, NP_078782.3:p.Ala202Thr, XP_024308905.1:p.Ala202Thr, NP_001273352.1:p.Ala202Thr, XP_047301770.1:p.Ala202Thr

Select item 146785313516.

rs1467853135 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219240235 (GRCh38)
2:220104957 (GRCh37)
Canonical SPDI:: NC_000002.12:219240234:A:G
Gene:: GLB1L (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219240235A>G, NC_000002.11:g.220104957A>G, NM_024506.5:c.502T>C, NM_024506.4:c.502T>C, NM_024506.3:c.502T>C, XM_024453137.2:c.502T>C, XM_024453137.1:c.502T>C, NM_001286423.2:c.502T>C, NM_001286423.1:c.502T>C, XM_047445814.1:c.502T>C, XM_047445816.1:c.-53T>C, NP_078782.3:p.Tyr168His, XP_024308905.1:p.Tyr168His, NP_001273352.1:p.Tyr168His, XP_047301770.1:p.Tyr168His

Select item 145783274117.

rs1457832741 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:219239799 (GRCh38)
2:220104521 (GRCh37)
Canonical SPDI:: NC_000002.12:219239798:CC:C
Gene:: GLB1L (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219239800del, NC_000002.11:g.220104522del, NM_024506.5:c.756del, NM_024506.4:c.756del, NM_024506.3:c.756del, XM_024453137.2:c.756del, XM_024453137.1:c.756del, XM_024453138.2:c.486del, XM_024453138.1:c.486del, NM_001286423.2:c.756del, NM_001286423.1:c.756del, XM_017004895.2:c.486del, XM_017004895.1:c.486del, XM_047445814.1:c.756del, XM_047445815.1:c.486del, NM_001286427.1:c.486del, XM_047445816.1:c.27del, NP_078782.3:p.Lys253fs, XP_024308905.1:p.Lys253fs, XP_024308906.1:p.Lys163fs, NP_001273352.1:p.Lys253fs, XP_016860384.1:p.Lys163fs, XP_047301770.1:p.Lys253fs, XP_047301771.1:p.Lys163fs, NP_001273356.1:p.Lys163fs, XP_047301772.1:p.Lys10fs

Select item 145705154318.

rs1457051543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219243261 (GRCh38)
2:220107983 (GRCh37)
Canonical SPDI:: NC_000002.12:219243260:G:A
Gene:: GLB1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219243261G>A, NC_000002.11:g.220107983G>A, NM_024506.5:c.126C>T, NM_024506.4:c.126C>T, NM_024506.3:c.126C>T, XM_024453137.2:c.126C>T, XM_024453137.1:c.126C>T, XM_024453138.2:c.126C>T, XM_024453138.1:c.126C>T, NM_001286423.2:c.126C>T, NM_001286423.1:c.126C>T, XM_017004895.2:c.126C>T, XM_017004895.1:c.126C>T, XM_047445814.1:c.126C>T, XM_047445815.1:c.126C>T, NM_001286427.1:c.126C>T

Select item 145617312619.

rs1456173126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219237717 (GRCh38)
2:220102439 (GRCh37)
Canonical SPDI:: NC_000002.12:219237716:T:C
Gene:: GLB1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.219237717T>C, NC_000002.11:g.220102439T>C, NM_024506.5:c.1484A>G, NM_024506.4:c.1484A>G, NM_024506.3:c.1484A>G, XM_024453137.2:c.1484A>G, XM_024453137.1:c.1484A>G, XM_024453138.2:c.1214A>G, XM_024453138.1:c.1214A>G, NM_001286423.2:c.1484A>G, NM_001286423.1:c.1484A>G, XM_017004895.2:c.1214A>G, XM_017004895.1:c.1214A>G, XM_047445814.1:c.1484A>G, XM_047445815.1:c.1214A>G, NM_001286427.1:c.1214A>G, XM_047445816.1:c.755A>G, NP_078782.3:p.Lys495Arg, XP_024308905.1:p.Lys495Arg, XP_024308906.1:p.Lys405Arg, NP_001273352.1:p.Lys495Arg, XP_016860384.1:p.Lys405Arg, XP_047301770.1:p.Lys495Arg, XP_047301771.1:p.Lys405Arg, NP_001273356.1:p.Lys405Arg, XP_047301772.1:p.Lys252Arg

Select item 145568718220.

rs1455687182 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGG [Show Flanks]
Chromosome:: 2:219242563 (GRCh38)
2:220107286 (GRCh37)
Canonical SPDI:: NC_000002.12:219242563:GGG:GGGGGG
Gene:: GLB1L (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
GGG=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.219242564_219242566dup, NC_000002.11:g.220107286_220107288dup, NM_024506.5:c.399_401dup, NM_024506.4:c.399_401dup, NM_024506.3:c.399_401dup, XM_024453137.2:c.399_401dup, XM_024453137.1:c.399_401dup, XM_024453138.2:c.399_401dup, XM_024453138.1:c.399_401dup, NM_001286423.2:c.399_401dup, NM_001286423.1:c.399_401dup, XM_017004895.2:c.399_401dup, XM_017004895.1:c.399_401dup, XM_047445814.1:c.399_401dup, XM_047445815.1:c.399_401dup, NM_001286427.1:c.399_401dup, NP_078782.3:p.Pro134dup, XP_024308905.1:p.Pro134dup, XP_024308906.1:p.Pro134dup, NP_001273352.1:p.Pro134dup, XP_016860384.1:p.Pro134dup, XP_047301770.1:p.Pro134dup, XP_047301771.1:p.Pro134dup, NP_001273356.1:p.Pro134dup

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