Linked Data
ClinVar Variation Id:
3192177
ClinVar RCV Id:
RCV004481115
dbSNP Id:
rs1366678845
gnomAD v3:
9-37441765-A-C
gnomAD v4:
9-37441765-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37441765A>C , CM000671.2:g.37441765A>C | GRCh38 |
| NC_000009.11:g.37441762A>C , CM000671.1:g.37441762A>C | GRCh37 |
| NC_000009.10:g.37431762A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307750.5:c.787T>G MANE Select | ENSP00000307604.4:p.Ser263Ala | |
| ENST00000307750.4:c.787T>G | ENSP00000307604.4:p.Ser263Ala | |
| NM_014872.2:c.787T>G | NP_055687.1:p.Ser263Ala | |
| XM_005251634.1:c.787T>G | XP_005251691.1:p.Ser263Ala | |
| XM_005251634.2:c.787T>G | XP_005251691.1:p.Ser263Ala | |
| NM_014872.3:c.787T>G MANE Select | NP_055687.1:p.Ser263Ala |