Linked Data
dbSNP Id:
rs1432572365
gnomAD v2:
1-109806929-T-C
gnomAD v3:
1-109264307-T-C
gnomAD v4:
1-109264307-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264307T>C , CM000663.2:g.109264307T>C | GRCh38 |
| NC_000001.10:g.109806929T>C , CM000663.1:g.109806929T>C | GRCh37 |
| NC_000001.9:g.109608452T>C | NCBI36 |
| NG_052669.1:g.19603T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5231T>C MANE Select | ENSP00000271332.3:p.Val1744Ala | |
| ENST00000271332.3:c.5231T>C | ENSP00000271332.3:p.Val1744Ala | |
| NM_001408.2:c.5231T>C | NP_001399.1:p.Val1744Ala | |
| XM_005270580.3:c.5231T>C | XP_005270637.1:p.Val1744Ala | |
| NM_001408.3:c.5231T>C MANE Select | NP_001399.1:p.Val1744Ala |