Linked Data
dbSNP Id:
rs754711482
ExAC:
6:12292681 C / A
gnomAD v2:
6-12292681-C-A
gnomAD v4:
6-12292448-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12292448C>A , CM000668.2:g.12292448C>A | GRCh38 |
| NC_000006.11:g.12292681C>A , CM000668.1:g.12292681C>A | GRCh37 |
| NC_000006.10:g.12400667C>A | NCBI36 |
| NG_016196.1:g.7153C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379375.6:c.172C>A MANE Select | ENSP00000368683.5:p.Leu58Met | |
| ENST00000379375.5:c.172C>A | ENSP00000368683.5:p.Leu58Met | |
| NM_001168319.1:c.169C>A | NP_001161791.1:p.Leu57Met | |
| NM_001955.4:c.172C>A | NP_001946.3:p.Leu58Met | |
| XM_011514330.1:c.172C>A | XP_011512632.1:p.Leu58Met | |
| XM_011514331.1:c.172C>A | XP_011512633.1:p.Leu58Met | |
| XM_011514332.1:c.169C>A | XP_011512634.1:p.Leu57Met | |
| XM_011514330.2:c.172C>A | XP_011512632.1:p.Leu58Met | |
| XM_011514331.3:c.172C>A | XP_011512633.1:p.Leu58Met | |
| XM_011514332.2:c.169C>A | XP_011512634.1:p.Leu57Met | |
| XM_017010331.1:c.172C>A | XP_016865820.1:p.Leu58Met | |
| NM_001955.5:c.172C>A MANE Select | NP_001946.3:p.Leu58Met | |
| NM_001168319.2:c.169C>A | NP_001161791.1:p.Leu57Met |