Linked Data
ClinVar Variation Id:
500941
dbSNP Id:
rs146416679
ExAC:
6:42935233 G / A
gnomAD v2:
6-42935233-G-A
gnomAD v3:
6-42967495-G-A
gnomAD v4:
6-42967495-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42967495G>A , CM000668.2:g.42967495G>A | GRCh38 |
| NC_000006.11:g.42935233G>A , CM000668.1:g.42935233G>A | GRCh37 |
| NC_000006.10:g.43043211G>A | NCBI36 |
| NG_008370.1:g.16749C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1757C>T MANE Select | ENSP00000303511.8:p.Ala586Val | |
| ENST00000244546.4:c.1757C>T | ENSP00000244546.4:p.Ala586Val | |
| ENST00000304611.12:c.1757C>T | ENSP00000303511.8:p.Ala586Val | |
| NM_000287.3:c.1757C>T | NP_000278.3:p.Ala586Val | |
| NM_001316313.1:c.1493C>T | NP_001303242.1:p.Ala498Val | |
| NR_133009.1:n.1850C>T | ||
| XM_011514661.1:c.1673C>T | XP_011512963.1:p.Ala558Val | |
| XR_926246.1:n.1738C>T | ||
| XM_011514661.2:c.1673C>T | XP_011512963.1:p.Ala558Val | |
| XR_001743466.2:n.2719C>T | ||
| NM_000287.4:c.1757C>T MANE Select | NP_000278.3:p.Ala586Val | |
| NM_001316313.2:c.1493C>T | NP_001303242.1:p.Ala498Val | |
| NR_133009.2:n.1788C>T |