SNP Links for Protein (Select 19923096) - SNP

Links from Protein

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Select item 14905260081.

rs1490526008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:1190976 (GRCh38)
Y:-1 (GRCh37)
Canonical SPDI:: NC_000024.10:1190975:T:C
Gene:: CRLF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003132/44 (ALFA)
C=0.00482/676 (GnomAD)
C=0.005267/1394 (TOPMED)
C=0.006035/29 (1000Genomes)
HGVS:: NC_000024.10:g.1190976T>C, NG_034237.1:g.26748A>G, NM_022148.4:c.1037A>G, NM_022148.3:c.1037A>G, NM_022148.2:c.1037A>G, NM_001012288.3:c.701A>G, NM_001012288.2:c.701A>G, NM_001012288.1:c.701A>G, NR_110830.2:n.1231A>G, NR_110830.1:n.1305A>G, NC_000023.11:g.1190976T>C, XM_011546181.3:c.1034A>G, XM_011546181.2:c.1034A>G, XM_011546181.1:c.1034A>G, XM_011545634.3:c.1034A>G, XM_011545634.2:c.1034A>G, XM_011545634.1:c.1034A>G, NP_071431.2:p.Gln346Arg, NP_001012288.2:p.Gln234Arg, XP_011543936.1:p.Gln345Arg

Select item 14897611192.

rs1489761119 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:1198577 (GRCh38)
Y:1267434 (GRCh37)
Canonical SPDI:: NC_000024.10:1198576:T:C
Gene:: CRLF2 (Varview)
Functional Consequence:: missense_variant,intron_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_000024.10:g.1198577T>C, NC_000024.9:g.1267434T>C, NG_034237.1:g.19147A>G, NM_022148.4:c.631A>G, NM_022148.3:c.631A>G, NM_022148.2:c.631A>G, NM_001012288.3:c.295A>G, NM_001012288.2:c.295A>G, NM_001012288.1:c.295A>G, NC_000023.11:g.1198577T>C, NC_000023.10:g.1317434T>C, XM_011546181.3:c.628A>G, XM_011546181.2:c.628A>G, XM_011546181.1:c.628A>G, XM_011545634.3:c.628A>G, XM_011545634.2:c.628A>G, XM_011545634.1:c.628A>G, NP_071431.2:p.Arg211Gly, NP_001012288.2:p.Arg99Gly, XP_011543936.1:p.Arg210Gly

Select item 14874400203.

rs1487440020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: Y:1202441 (GRCh38)
Y:1271311 (GRCh37)
Canonical SPDI:: NC_000024.10:1202440:A:T
Gene:: CRLF2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000024.10:g.1202441A>T, NC_000024.9:g.1271311A>T, NG_034237.1:g.15283T>A, NM_022148.4:c.444T>A, NM_022148.3:c.444T>A, NM_022148.2:c.444T>A, NM_001012288.3:c.108T>A, NM_001012288.2:c.108T>A, NM_001012288.1:c.108T>A, NR_110830.2:n.456T>A, NR_110830.1:n.530T>A, NC_000023.11:g.1202441A>T, NC_000023.10:g.1321311A>T, XM_011546181.3:c.441T>A, XM_011546181.2:c.441T>A, XM_011546181.1:c.441T>A, XM_011545634.3:c.441T>A, XM_011545634.2:c.441T>A, XM_011545634.1:c.441T>A, NP_071431.2:p.Tyr148Ter, NP_001012288.2:p.Tyr36Ter, XP_011543936.1:p.Tyr147Ter

Select item 14862579294.

rs1486257929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: Y:1212611 (GRCh38)
Y:1281504 (GRCh37)
Canonical SPDI:: NC_000024.10:1212610:C:G,NC_000024.10:1212610:C:T
Gene:: CRLF2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000024.10:g.1212611C>G, NC_000024.10:g.1212611C>T, NC_000024.9:g.1281504C>G, NC_000024.9:g.1281504C>T, NG_034237.1:g.5113G>C, NG_034237.1:g.5113G>A, NM_022148.4:c.24G>C, NM_022148.4:c.24G>A, NM_022148.3:c.24G>C, NM_022148.3:c.24G>A, NM_022148.2:c.24G>C, NM_022148.2:c.24G>A, NM_001012288.3:c.-210G>C, NM_001012288.3:c.-210G>A, NM_001012288.2:c.-210G>C, NM_001012288.2:c.-210G>A, NM_001012288.1:c.-210G>C, NM_001012288.1:c.-210G>A, NR_110830.2:n.39G>C, NR_110830.2:n.39G>A, NR_110830.1:n.113G>C, NR_110830.1:n.113G>A, NC_000023.11:g.1212611C>G, NC_000023.11:g.1212611C>T, NC_000023.10:g.1331504C>G, NC_000023.10:g.1331504C>T, XM_011546181.3:c.24G>C, XM_011546181.3:c.24G>A, XM_011546181.2:c.24G>C, XM_011546181.2:c.24G>A, XM_011546181.1:c.24G>C, XM_011546181.1:c.24G>A, XM_011545634.3:c.24G>C, XM_011545634.3:c.24G>A, XM_011545634.2:c.24G>C, XM_011545634.2:c.24G>A, XM_011545634.1:c.24G>C, XM_011545634.1:c.24G>A, NP_071431.2:p.Trp8Cys, NP_071431.2:p.Trp8Ter, XP_011543936.1:p.Trp8Cys, XP_011543936.1:p.Trp8Ter

Select item 14856769015.

rs1485676901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: Y:1191079 (GRCh38)
Y:-1 (GRCh37)
Canonical SPDI:: NC_000024.10:1191078:G:C
Gene:: CRLF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000569/8 (ALFA)
C=0.000155/41 (TOPMED)
C=0.000228/32 (GnomAD)
HGVS:: NC_000024.10:g.1191079G>C, NG_034237.1:g.26645C>G, NM_022148.4:c.934C>G, NM_022148.3:c.934C>G, NM_022148.2:c.934C>G, NM_001012288.3:c.598C>G, NM_001012288.2:c.598C>G, NM_001012288.1:c.598C>G, NR_110830.2:n.1128C>G, NR_110830.1:n.1202C>G, NC_000023.11:g.1191079G>C, XM_011546181.3:c.931C>G, XM_011546181.2:c.931C>G, XM_011546181.1:c.931C>G, XM_011545634.3:c.931C>G, XM_011545634.2:c.931C>G, XM_011545634.1:c.931C>G, NP_071431.2:p.Leu312Val, NP_001012288.2:p.Leu200Val, XP_011543936.1:p.Leu311Val

Select item 14854846626.

rs1485484662 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:1198681 (GRCh38)
Y:1267538 (GRCh37)
Canonical SPDI:: NC_000024.10:1198680:T:C
Gene:: CRLF2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.1198681T>C, NC_000024.9:g.1267538T>C, NG_034237.1:g.19043A>G, NM_022148.4:c.527A>G, NM_022148.3:c.527A>G, NM_022148.2:c.527A>G, NM_001012288.3:c.191A>G, NM_001012288.2:c.191A>G, NM_001012288.1:c.191A>G, NC_000023.11:g.1198681T>C, NC_000023.10:g.1317538T>C, XM_011546181.3:c.524A>G, XM_011546181.2:c.524A>G, XM_011546181.1:c.524A>G, XM_011545634.3:c.524A>G, XM_011545634.2:c.524A>G, XM_011545634.1:c.524A>G, NP_071431.2:p.Asp176Gly, NP_001012288.2:p.Asp64Gly, XP_011543936.1:p.Asp175Gly

Select item 14812204547.

rs1481220454 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACCA [Show Flanks]
Chromosome:: Y:1206572 (GRCh38)
Y:1275466 (GRCh37)
Canonical SPDI:: NC_000024.10:1206572::ACCA
Gene:: CRLF2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: ACCA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.1206572_1206573insACCA, NC_000024.9:g.1275465_1275466insACCA, NG_034237.1:g.11151_11152insTGGT, NM_022148.4:c.209_210insTGGT, NM_022148.3:c.209_210insTGGT, NM_022148.2:c.209_210insTGGT, NM_001012288.3:c.-128_-127insTGGT, NM_001012288.2:c.-128_-127insTGGT, NM_001012288.1:c.-128_-127insTGGT, NR_110830.2:n.221_222insTGGT, NR_110830.1:n.295_296insTGGT, NC_000023.11:g.1206572_1206573insACCA, NC_000023.10:g.1325465_1325466insACCA, XM_011546181.3:c.206_207insTGGT, XM_011546181.2:c.206_207insTGGT, XM_011546181.1:c.206_207insTGGT, XM_011545634.3:c.206_207insTGGT, XM_011545634.2:c.206_207insTGGT, XM_011545634.1:c.206_207insTGGT, NP_071431.2:p.Gln70fs, XP_011543936.1:p.Gln69fs

Select item 14808398778.

rs1480839877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: Y:1191074 (GRCh38)
Y:-1 (GRCh37)
Canonical SPDI:: NC_000024.10:1191073:T:A,NC_000024.10:1191073:T:C
Gene:: CRLF2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.10954/790 (ALFA)
C=0.350901/92880 (TOPMED)
C=0.35692/1715 (1000Genomes)
C=0.369444/10439 (TOMMO)
HGVS:: NC_000024.10:g.1191074T>A, NC_000024.10:g.1191074T>C, NG_034237.1:g.26650A>T, NG_034237.1:g.26650A>G, NM_022148.4:c.939A>T, NM_022148.4:c.939A>G, NM_022148.3:c.939A>T, NM_022148.3:c.939A>G, NM_022148.2:c.939A>T, NM_022148.2:c.939A>G, NM_001012288.3:c.603A>T, NM_001012288.3:c.603A>G, NM_001012288.2:c.603A>T, NM_001012288.2:c.603A>G, NM_001012288.1:c.603G>A, NM_001012288.1:c.603G>T, NR_110830.2:n.1133A>T, NR_110830.2:n.1133A>G, NR_110830.1:n.1207A>T, NR_110830.1:n.1207A>G, NC_000023.11:g.1191074T>A, NC_000023.11:g.1191074T>C, XM_011546181.3:c.936A>T, XM_011546181.3:c.936A>G, XM_011546181.2:c.936A>T, XM_011546181.2:c.936A>G, XM_011546181.1:c.936A>T, XM_011546181.1:c.936A>G, XM_011545634.3:c.936A>T, XM_011545634.3:c.936A>G, XM_011545634.2:c.936A>T, XM_011545634.2:c.936A>G, XM_011545634.1:c.936A>T, XM_011545634.1:c.936A>G

Select item 14786257509.

rs1478625750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: Y:1196791 (GRCh38)
Y:1264905 (GRCh37)
Canonical SPDI:: NC_000024.10:1196790:C:G
Gene:: CRLF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.1196791C>G, NC_000024.9:g.1264905C>G, NG_034237.1:g.20933G>C, NM_022148.4:c.756G>C, NM_022148.3:c.756G>C, NM_022148.2:c.756G>C, NM_001012288.3:c.420G>C, NM_001012288.2:c.420G>C, NM_001012288.1:c.420G>C, NR_110830.2:n.950G>C, NR_110830.1:n.1024G>C, NC_000023.11:g.1196791C>G, NC_000023.10:g.1314905C>G, XM_011546181.3:c.753G>C, XM_011546181.2:c.753G>C, XM_011546181.1:c.753G>C, XM_011545634.3:c.753G>C, XM_011545634.2:c.753G>C, XM_011545634.1:c.753G>C, NP_071431.2:p.Trp252Cys, NP_001012288.2:p.Trp140Cys, XP_011543936.1:p.Trp251Cys

Select item 147827930010.

rs1478279300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: Y:1198692 (GRCh38)
Y:1267549 (GRCh37)
Canonical SPDI:: NC_000024.10:1198691:T:A
Gene:: CRLF2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000024.10:g.1198692T>A, NC_000024.9:g.1267549T>A, NG_034237.1:g.19032A>T, NM_022148.4:c.516A>T, NM_022148.3:c.516A>T, NM_022148.2:c.516A>T, NM_001012288.3:c.180A>T, NM_001012288.2:c.180A>T, NM_001012288.1:c.180A>T, NC_000023.11:g.1198692T>A, NC_000023.10:g.1317549T>A, XM_011546181.3:c.513A>T, XM_011546181.2:c.513A>T, XM_011546181.1:c.513A>T, XM_011545634.3:c.513A>T, XM_011545634.2:c.513A>T, XM_011545634.1:c.513A>T

Select item 147793342111.

rs1477933421 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:1206496 (GRCh38)
Y:1275389 (GRCh37)
Canonical SPDI:: NC_000024.10:1206495:A:G
Gene:: CRLF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.1206496A>G, NC_000024.9:g.1275389A>G, NG_034237.1:g.11228T>C, NM_022148.4:c.286T>C, NM_022148.3:c.286T>C, NM_022148.2:c.286T>C, NM_001012288.3:c.-51T>C, NM_001012288.2:c.-51T>C, NM_001012288.1:c.-51T>C, NR_110830.2:n.298T>C, NR_110830.1:n.372T>C, NC_000023.11:g.1206496A>G, NC_000023.10:g.1325389A>G, XM_011546181.3:c.283T>C, XM_011546181.2:c.283T>C, XM_011546181.1:c.283T>C, XM_011545634.3:c.283T>C, XM_011545634.2:c.283T>C, XM_011545634.1:c.283T>C, NP_071431.2:p.Tyr96His, XP_011543936.1:p.Tyr95His

Select item 147657574212.

rs1476575742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:1206579 (GRCh38)
Y:1275472 (GRCh37)
Canonical SPDI:: NC_000024.10:1206578:T:C
Gene:: CRLF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.1206579T>C, NC_000024.9:g.1275472T>C, NG_034237.1:g.11145A>G, NM_022148.4:c.203A>G, NM_022148.3:c.203A>G, NM_022148.2:c.203A>G, NM_001012288.3:c.-134A>G, NM_001012288.2:c.-134A>G, NM_001012288.1:c.-134A>G, NR_110830.2:n.215A>G, NR_110830.1:n.289A>G, NC_000023.11:g.1206579T>C, NC_000023.10:g.1325472T>C, XM_011546181.3:c.200A>G, XM_011546181.2:c.200A>G, XM_011546181.1:c.200A>G, XM_011545634.3:c.200A>G, XM_011545634.2:c.200A>G, XM_011545634.1:c.200A>G, NP_071431.2:p.Tyr68Cys, XP_011543936.1:p.Tyr67Cys

Select item 147468401913.

rs1474684019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: Y:1196894 (GRCh38)
Y:1265008 (GRCh37)
Canonical SPDI:: NC_000024.10:1196893:C:G,NC_000024.10:1196893:C:T
Gene:: CRLF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.1196894C>G, NC_000024.10:g.1196894C>T, NC_000024.9:g.1265008C>G, NC_000024.9:g.1265008C>T, NG_034237.1:g.20830G>C, NG_034237.1:g.20830G>A, NM_022148.4:c.653G>C, NM_022148.4:c.653G>A, NM_022148.3:c.653G>C, NM_022148.3:c.653G>A, NM_022148.2:c.653G>C, NM_022148.2:c.653G>A, NM_001012288.3:c.317G>C, NM_001012288.3:c.317G>A, NM_001012288.2:c.317G>C, NM_001012288.2:c.317G>A, NM_001012288.1:c.317G>C, NM_001012288.1:c.317G>A, NR_110830.2:n.847G>C, NR_110830.2:n.847G>A, NR_110830.1:n.921G>C, NR_110830.1:n.921G>A, NC_000023.11:g.1196894C>G, NC_000023.11:g.1196894C>T, NC_000023.10:g.1315008C>G, NC_000023.10:g.1315008C>T, XM_011546181.3:c.650G>C, XM_011546181.3:c.650G>A, XM_011546181.2:c.650G>C, XM_011546181.2:c.650G>A, XM_011546181.1:c.650G>C, XM_011546181.1:c.650G>A, XM_011545634.3:c.650G>C, XM_011545634.3:c.650G>A, XM_011545634.2:c.650G>C, XM_011545634.2:c.650G>A, XM_011545634.1:c.650G>C, XM_011545634.1:c.650G>A, NP_071431.2:p.Cys218Ser, NP_071431.2:p.Cys218Tyr, NP_001012288.2:p.Cys106Ser, NP_001012288.2:p.Cys106Tyr, XP_011543936.1:p.Cys217Ser, XP_011543936.1:p.Cys217Tyr

Select item 147435941414.

rs1474359414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:1196830 (GRCh38)
Y:1264944 (GRCh37)
Canonical SPDI:: NC_000024.10:1196829:G:A
Gene:: CRLF2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000024.10:g.1196830G>A, NC_000024.9:g.1264944G>A, NG_034237.1:g.20894C>T, NM_022148.4:c.717C>T, NM_022148.3:c.717C>T, NM_022148.2:c.717C>T, NM_001012288.3:c.381C>T, NM_001012288.2:c.381C>T, NM_001012288.1:c.381C>T, NR_110830.2:n.911C>T, NR_110830.1:n.985C>T, NC_000023.11:g.1196830G>A, NC_000023.10:g.1314944G>A, XM_011546181.3:c.714C>T, XM_011546181.2:c.714C>T, XM_011546181.1:c.714C>T, XM_011545634.3:c.714C>T, XM_011545634.2:c.714C>T, XM_011545634.1:c.714C>T

Select item 147421327615.

rs1474213276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: Y:1208823 (GRCh38)
Y:1277716 (GRCh37)
Canonical SPDI:: NC_000024.10:1208822:G:C
Gene:: CRLF2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000024.10:g.1208823G>C, NC_000024.9:g.1277716G>C, NG_034237.1:g.8901C>G, NM_022148.4:c.165C>G, NM_022148.3:c.165C>G, NM_022148.2:c.165C>G, NR_110830.2:n.177C>G, NR_110830.1:n.251C>G, NC_000023.11:g.1208823G>C, NC_000023.10:g.1327716G>C, XM_011546181.3:c.162C>G, XM_011546181.2:c.162C>G, XM_011546181.1:c.162C>G, XM_011545634.3:c.162C>G, XM_011545634.2:c.162C>G, XM_011545634.1:c.162C>G, NP_071431.2:p.Asn55Lys, XP_011543936.1:p.Asn54Lys

Select item 147302005816.

rs1473020058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:1193253 (GRCh38)
Y:-1 (GRCh37)
Canonical SPDI:: NC_000024.10:1193252:G:A
Gene:: CRLF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.1193253G>A, NG_034237.1:g.24471C>T, NM_022148.4:c.817C>T, NM_022148.3:c.817C>T, NM_022148.2:c.817C>T, NM_001012288.3:c.481C>T, NM_001012288.2:c.481C>T, NM_001012288.1:c.481C>T, NR_110830.2:n.1011C>T, NR_110830.1:n.1085C>T, NC_000023.11:g.1193253G>A, XM_011546181.3:c.814C>T, XM_011546181.2:c.814C>T, XM_011546181.1:c.814C>T, XM_011545634.3:c.814C>T, XM_011545634.2:c.814C>T, XM_011545634.1:c.814C>T, NP_071431.2:p.Pro273Ser, NP_001012288.2:p.Pro161Ser, XP_011543936.1:p.Pro272Ser

Select item 147228564717.

rs1472285647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:1202503 (GRCh38)
Y:1271373 (GRCh37)
Canonical SPDI:: NC_000024.10:1202502:A:G
Gene:: CRLF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.1202503A>G, NC_000024.9:g.1271373A>G, NG_034237.1:g.15221T>C, NM_022148.4:c.382T>C, NM_022148.3:c.382T>C, NM_022148.2:c.382T>C, NM_001012288.3:c.46T>C, NM_001012288.2:c.46T>C, NM_001012288.1:c.46T>C, NR_110830.2:n.394T>C, NR_110830.1:n.468T>C, NC_000023.11:g.1202503A>G, NC_000023.10:g.1321373A>G, XM_011546181.3:c.379T>C, XM_011546181.2:c.379T>C, XM_011546181.1:c.379T>C, XM_011545634.3:c.379T>C, XM_011545634.2:c.379T>C, XM_011545634.1:c.379T>C, NP_071431.2:p.Ser128Pro, NP_001012288.2:p.Ser16Pro, XP_011543936.1:p.Ser127Pro

Select item 147112850518.

rs1471128505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:1190971 (GRCh38)
Y:-1 (GRCh37)
Canonical SPDI:: NC_000024.10:1190970:G:A
Gene:: CRLF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000107/15 (GnomAD)
A=0.000128/34 (TOPMED)
A=0.000208/1 (1000Genomes)
HGVS:: NC_000024.10:g.1190971G>A, NG_034237.1:g.26753C>T, NM_022148.4:c.1042C>T, NM_022148.3:c.1042C>T, NM_022148.2:c.1042C>T, NM_001012288.3:c.706C>T, NM_001012288.2:c.706C>T, NM_001012288.1:c.706C>T, NR_110830.2:n.1236C>T, NR_110830.1:n.1310C>T, NC_000023.11:g.1190971G>A, XM_011546181.3:c.1039C>T, XM_011546181.2:c.1039C>T, XM_011546181.1:c.1039C>T, XM_011545634.3:c.1039C>T, XM_011545634.2:c.1039C>T, XM_011545634.1:c.1039C>T, NP_071431.2:p.Leu348Phe, NP_001012288.2:p.Leu236Phe, XP_011543936.1:p.Leu347Phe

Select item 146642779419.

rs1466427794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:1196807 (GRCh38)
Y:1264921 (GRCh37)
Canonical SPDI:: NC_000024.10:1196806:A:G
Gene:: CRLF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.1196807A>G, NC_000024.9:g.1264921A>G, NG_034237.1:g.20917T>C, NM_022148.4:c.740T>C, NM_022148.3:c.740T>C, NM_022148.2:c.740T>C, NM_001012288.3:c.404T>C, NM_001012288.2:c.404T>C, NM_001012288.1:c.404T>C, NR_110830.2:n.934T>C, NR_110830.1:n.1008T>C, NC_000023.11:g.1196807A>G, NC_000023.10:g.1314921A>G, XM_011546181.3:c.737T>C, XM_011546181.2:c.737T>C, XM_011546181.1:c.737T>C, XM_011545634.3:c.737T>C, XM_011545634.2:c.737T>C, XM_011545634.1:c.737T>C, NP_071431.2:p.Leu247Pro, NP_001012288.2:p.Leu135Pro, XP_011543936.1:p.Leu246Pro

Select item 146516795620.

rs1465167956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: Y:1208883 (GRCh38)
Y:1277776 (GRCh37)
Canonical SPDI:: NC_000024.10:1208882:G:C
Gene:: CRLF2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.1208883G>C, NC_000024.9:g.1277776G>C, NG_034237.1:g.8841C>G, NM_022148.4:c.105C>G, NM_022148.3:c.105C>G, NM_022148.2:c.105C>G, NR_110830.2:n.117C>G, NR_110830.1:n.191C>G, NC_000023.11:g.1208883G>C, NC_000023.10:g.1327776G>C, XM_011546181.3:c.102C>G, XM_011546181.2:c.102C>G, XM_011546181.1:c.102C>G, XM_011545634.3:c.102C>G, XM_011545634.2:c.102C>G, XM_011545634.1:c.102C>G, NP_071431.2:p.Ile35Met, XP_011543936.1:p.Ile34Met

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