Linked Data
dbSNP Id:
rs778390845
ExAC:
4:155487072 C / A
gnomAD v2:
4-155487072-C-A
gnomAD v4:
4-154565920-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154565920C>A , CM000666.2:g.154565920C>A | GRCh38 |
| NC_000004.11:g.155487072C>A , CM000666.1:g.155487072C>A | GRCh37 |
| NC_000004.10:g.155706522C>A | NCBI36 |
| NG_008833.1:g.7941C>A , LRG_558:g.7941C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.227C>A MANE Select | ENSP00000306099.4:p.Ala76Asp | |
| ENST00000302068.8:c.227C>A | ENSP00000306099.4:p.Ala76Asp | |
| ENST00000425838.5:c.*139C>A | ENSP00000398719.1:n.*139C>A | |
| ENST00000473984.1:n.140C>A | ||
| ENST00000497097.5:n.234C>A | ||
| ENST00000498375.2:n.857C>A | ||
| ENST00000502545.5:n.208C>A | ||
| ENST00000509493.1:c.-167-1673C>A | ENSP00000426757.1:n.-167-1673C>A | |
| NM_001184741.1:c.165+62C>A | NP_001171670.1:n.165+62C>A | |
| NM_005141.4:c.227C>A , LRG_558t1:c.227C>A | NP_005132.2:p.Ala76Asp | |
| NM_001382759.1:c.227C>A | NP_001369688.1:p.Ala76Asp | |
| NM_001382760.1:c.227C>A | NP_001369689.1:p.Ala76Asp | |
| NM_001382761.1:c.227C>A | NP_001369690.1:p.Ala76Asp | |
| NM_001382762.1:c.227C>A | NP_001369691.1:p.Ala76Asp | |
| NM_001382763.1:c.227C>A | NP_001369692.1:p.Ala76Asp | |
| NM_001382764.1:c.227C>A | NP_001369693.1:p.Ala76Asp | |
| NM_001382765.1:c.227C>A | NP_001369694.1:p.Ala76Asp | |
| NM_005141.5:c.227C>A MANE Select | NP_005132.2:p.Ala76Asp |