Linked Data
ClinVar Variation Id:
31129
dbSNP Id:
rs146370051
ExAC:
10:73892817 T / C
gnomAD v2:
10-73892817-T-C
gnomAD v3:
10-72133059-T-C
gnomAD v4:
10-72133059-T-C
PubMed:
PMID:21791690
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72133059T>C , CM000672.2:g.72133059T>C | GRCh38 |
| NC_000010.10:g.73892817T>C , CM000672.1:g.73892817T>C | GRCh37 |
| NC_000010.9:g.73562823T>C | NCBI36 |
| NG_031890.1:g.89076A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317168.11:c.749A>G | ENSP00000320810.7:p.Asn250Ser | |
| ENST00000525286.6:c.439A>G | ||
| ENST00000671788.1:c.869A>G | ENSP00000500906.1:p.Asn290Ser | |
| ENST00000672121.1:c.656A>G | ENSP00000500771.1:p.Asn219Ser | |
| ENST00000672774.1:c.929A>G | ENSP00000500488.1:p.Asn310Ser | |
| ENST00000672809.1:n.297+19810A>G | ||
| ENST00000672940.1:c.749A>G | ENSP00000500074.1:p.Asn250Ser | |
| ENST00000672957.1:c.869A>G MANE Select | ENSP00000500935.1:p.Asn290Ser | |
| ENST00000673599.1:c.*775A>G | ENSP00000499820.1:n.*775A>G | |
| ENST00000317126.8:c.869A>G | ENSP00000320461.4:p.Asn290Ser | |
| ENST00000317168.10:c.869A>G | ENSP00000320810.6:p.Asn290Ser | |
| ENST00000342444.8:c.953A>G | ENSP00000339404.4:p.Asn318Ser | |
| ENST00000394915.7:c.953A>G | ENSP00000378373.3:p.Asn318Ser | |
| ENST00000394919.5:c.869A>G | ENSP00000378377.1:p.Asn290Ser | |
| ENST00000486689.6:c.663A>G | ||
| ENST00000525286.5:c.439A>G | ||
| ENST00000530394.5:c.262A>G | ||
| ENST00000534259.1:n.1405A>G | ||
| NM_001198798.2:c.869A>G | NP_001185727.1:p.Asn290Ser | |
| NM_001198799.2:c.953A>G | NP_001185728.1:p.Asn318Ser | |
| NM_001198800.2:c.869A>G | NP_001185729.1:p.Asn290Ser | |
| NR_045564.1:n.1216A>G | ||
| XM_006717873.2:c.869A>G | XP_006717936.1:p.Asn290Ser | |
| XM_011539840.1:c.869A>G | XP_011538142.1:p.Asn290Ser | |
| XM_011539841.1:c.869A>G | XP_011538143.1:p.Asn290Ser | |
| XM_011539842.1:c.869A>G | XP_011538144.1:p.Asn290Ser | |
| XM_011539843.1:c.749A>G | XP_011538145.1:p.Asn250Ser | |
| XM_011539844.1:c.869A>G | XP_011538146.1:p.Asn290Ser | |
| XM_006717873.4:c.869A>G | XP_006717936.1:p.Asn290Ser | |
| XM_011539841.3:c.869A>G | XP_011538143.1:p.Asn290Ser | |
| XM_011539842.3:c.869A>G | XP_011538144.1:p.Asn290Ser | |
| XM_017016291.2:c.869A>G | XP_016871780.1:p.Asn290Ser | |
| XM_017016292.2:c.869A>G | XP_016871781.1:p.Asn290Ser | |
| XM_017016293.2:c.869A>G | XP_016871782.1:p.Asn290Ser | |
| XM_017016294.2:c.869A>G | XP_016871783.1:p.Asn290Ser | |
| XM_024448030.1:c.935A>G | XP_024303798.1:p.Asn312Ser | |
| XM_024448031.1:c.935A>G | XP_024303799.1:p.Asn312Ser | |
| XM_024448032.1:c.935A>G | XP_024303800.1:p.Asn312Ser | |
| NM_001198799.3:c.953A>G | NP_001185728.1:p.Asn318Ser | |
| NM_001198800.3:c.869A>G MANE Select | NP_001185729.1:p.Asn290Ser | |
| NM_001369085.1:c.935A>G | NP_001356014.1:p.Asn312Ser | |
| NM_001369086.1:c.935A>G | NP_001356015.1:p.Asn312Ser | |
| NM_001369087.1:c.869A>G | NP_001356016.1:p.Asn290Ser | |
| NM_001369088.1:c.869A>G | NP_001356017.1:p.Asn290Ser | |
| NM_001369089.1:c.869A>G | NP_001356018.1:p.Asn290Ser | |
| NM_001369090.1:c.869A>G | NP_001356019.1:p.Asn290Ser | |
| NM_001369091.1:c.869A>G | NP_001356020.1:p.Asn290Ser | |
| NM_001369092.1:c.869A>G | NP_001356021.1:p.Asn290Ser | |
| NM_001369093.1:c.869A>G | NP_001356022.1:p.Asn290Ser | |
| NM_001369094.1:c.869A>G | NP_001356023.1:p.Asn290Ser | |
| NM_001369095.1:c.869A>G | NP_001356024.1:p.Asn290Ser | |
| NM_001369096.1:c.869A>G | NP_001356025.1:p.Asn290Ser | |
| NM_001369097.1:c.869A>G | NP_001356026.1:p.Asn290Ser | |
| NM_001369098.1:c.869A>G | NP_001356027.1:p.Asn290Ser | |
| NM_001369099.1:c.815A>G | NP_001356028.1:p.Asn272Ser | |
| NM_001369100.1:c.749A>G | NP_001356029.1:p.Asn250Ser | |
| NM_001369101.1:c.752A>G | NP_001356030.1:p.Asn251Ser | |
| NM_001369102.1:c.752A>G | NP_001356031.1:p.Asn251Ser | |
| NM_001369103.1:c.749A>G | NP_001356032.1:p.Asn250Ser | |
| NM_001369104.1:c.749A>G | NP_001356033.1:p.Asn250Ser | |
| NM_001369105.1:c.752A>G | NP_001356034.1:p.Asn251Ser | |
| NM_001369106.1:c.752A>G | NP_001356035.1:p.Asn251Ser | |
| NM_001369107.1:c.752A>G | NP_001356036.1:p.Asn251Ser | |
| NM_001369108.1:c.749A>G | NP_001356037.1:p.Asn250Ser | |
| NM_001369109.1:c.749A>G | NP_001356038.1:p.Asn250Ser | |
| NM_001369110.1:c.869A>G | NP_001356039.1:p.Asn290Ser | |
| NM_001369111.1:c.869A>G | NP_001356040.1:p.Asn290Ser | |
| NM_001369112.1:c.749A>G | NP_001356041.1:p.Asn250Ser |