Linked Data
ClinVar Variation Id:
43767
dbSNP Id:
rs202176504
ExAC:
1:237729882 T / C
gnomAD v2:
1-237729882-T-C
gnomAD v3:
1-237566582-T-C
gnomAD v4:
1-237566582-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237566582T>C , CM000663.2:g.237566582T>C | GRCh38 |
| NC_000001.10:g.237729882T>C , CM000663.1:g.237729882T>C | GRCh37 |
| NC_000001.9:g.235796505T>C | NCBI36 |
| NG_008799.2:g.529181T>C | |
| NG_008799.3:g.529399T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.3230T>C | ENSP00000499659.2:p.Val1077Ala | |
| ENST00000659194.3:c.3230T>C | ENSP00000499653.3:p.Val1077Ala | |
| ENST00000660292.2:c.3230T>C | ENSP00000499787.2:p.Val1077Ala | |
| ENST00000366574.7:c.3230T>C MANE Select | ENSP00000355533.2:p.Val1077Ala | |
| ENST00000360064.7:c.3182T>C | ENSP00000353174.7:p.Val1061Ala | |
| ENST00000366574.6:c.3230T>C | ENSP00000355533.2:p.Val1077Ala | |
| NM_001035.2:c.3230T>C | NP_001026.2:p.Val1077Ala | |
| XM_006711802.2:c.3230T>C | XP_006711865.1:p.Val1077Ala | |
| XM_006711803.2:c.3227T>C | XP_006711866.1:p.Val1076Ala | |
| XM_006711804.2:c.3230T>C | XP_006711867.1:p.Val1077Ala | |
| XM_006711805.2:c.3230T>C | XP_006711868.1:p.Val1077Ala | |
| XM_006711806.2:c.3230T>C | XP_006711869.1:p.Val1077Ala | |
| XM_006711807.2:c.3230T>C | XP_006711870.1:p.Val1077Ala | |
| XM_006711808.2:c.3230T>C | XP_006711871.1:p.Val1077Ala | |
| XM_006711809.2:c.3230T>C | XP_006711872.1:p.Val1077Ala | |
| XM_006711810.2:c.3227T>C | XP_006711873.1:p.Val1076Ala | |
| XR_949152.1:n.3511T>C | ||
| XM_006711802.3:c.3230T>C | XP_006711865.1:p.Val1077Ala | |
| XM_006711803.3:c.3227T>C | XP_006711866.1:p.Val1076Ala | |
| XM_006711804.3:c.3230T>C | XP_006711867.1:p.Val1077Ala | |
| XM_006711805.3:c.3230T>C | XP_006711868.1:p.Val1077Ala | |
| XM_006711806.3:c.3230T>C | XP_006711869.1:p.Val1077Ala | |
| XM_006711807.3:c.3230T>C | XP_006711870.1:p.Val1077Ala | |
| XM_006711808.3:c.3230T>C | XP_006711871.1:p.Val1077Ala | |
| XM_006711810.3:c.3227T>C | XP_006711873.1:p.Val1076Ala | |
| XM_017002028.1:c.3209T>C | XP_016857517.1:p.Val1070Ala | |
| XR_002957299.1:n.3544T>C | ||
| XR_949152.2:n.3544T>C | ||
| NM_001035.3:c.3230T>C MANE Select | NP_001026.2:p.Val1077Ala |