Linked Data
dbSNP Id:
rs763978899
ExAC:
4:69512916 G / A
gnomAD v2:
4-69512916-G-A
gnomAD v4:
4-68647198-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68647198G>A , CM000666.2:g.68647198G>A | GRCh38 |
| NC_000004.11:g.69512916G>A , CM000666.1:g.69512916G>A | GRCh37 |
| NC_000004.10:g.69195511G>A | NCBI36 |
| NG_052676.1:g.28579C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.1499C>T MANE Select | ENSP00000341045.5:p.Ala500Val | |
| ENST00000338206.5:c.1499C>T | ENSP00000341045.5:p.Ala500Val | |
| ENST00000616841.4:c.1499C>T | ENSP00000482004.1:p.Ala500Val | |
| NM_001076.3:c.1499C>T | NP_001067.2:p.Ala500Val | |
| NM_001076.4:c.1499C>T MANE Select | NP_001067.2:p.Ala500Val |