Linked Data
dbSNP Id:
rs782016139
ExAC:
10:48413946 C / T
gnomAD v2:
10-48413946-C-T
gnomAD v3:
10-47325416-G-A
gnomAD v4:
10-47325416-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47325416G>A , CM000672.2:g.47325416G>A | GRCh38 |
| NC_000010.10:g.48413946C>T , CM000672.1:g.48413946C>T | GRCh37 |
| NC_000010.9:g.48033952C>T | NCBI36 |
| NG_033916.1:g.7927G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581492.3:c.922G>A MANE Select | ENSP00000463051.1:p.Val308Met | |
| ENST00000581492.2:c.922G>A | ENSP00000463051.1:p.Val308Met | |
| NM_016204.2:c.922G>A | NP_057288.1:p.Val308Met | |
| XM_006717761.2:c.922G>A | XP_006717824.1:p.Val308Met | |
| NM_016204.3:c.922G>A | NP_057288.1:p.Val308Met | |
| NM_016204.4:c.922G>A MANE Select | NP_057288.1:p.Val308Met |