Linked Data
ClinVar Variation Id:
2408197
ClinVar RCV Id:
RCV004242205
dbSNP Id:
rs747457502
ExAC:
7:24325011 C / A
gnomAD v2:
7-24325011-C-A
gnomAD v4:
7-24285392-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24285392C>A , CM000669.2:g.24285392C>A | GRCh38 |
| NC_000007.13:g.24325011C>A , CM000669.1:g.24325011C>A | GRCh37 |
| NC_000007.12:g.24291536C>A | NCBI36 |
| NG_016148.1:g.6205C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242152.7:c.152C>A MANE Select | ENSP00000242152.2:p.Ala51Glu | |
| ENST00000242152.6:c.152C>A | ENSP00000242152.2:p.Ala51Glu | |
| ENST00000405982.1:c.152C>A | ENSP00000385282.1:p.Ala51Glu | |
| ENST00000407573.5:c.152C>A | ENSP00000384364.1:p.Ala51Glu | |
| NM_000905.3:c.152C>A | NP_000896.1:p.Ala51Glu | |
| XM_017012910.1:c.42-29693G>T | XP_016868399.1:n.42-29693G>T | |
| XM_017012911.1:c.42-29693G>T | XP_016868400.1:n.42-29693G>T | |
| XR_001745121.1:n.473+33965G>T | ||
| XR_001745122.1:n.345-88363G>T | ||
| XR_001745123.1:n.473+33965G>T | ||
| XR_001745124.1:n.473+33965G>T | ||
| XR_001745125.1:n.473+33965G>T | ||
| XR_001745126.1:n.473+33965G>T | ||
| XR_001745127.1:n.345-29693G>T | ||
| XR_001745129.1:n.473+33965G>T | ||
| XR_001745130.1:n.473+33965G>T | ||
| XR_001745131.1:n.473+33965G>T | ||
| XR_001745132.1:n.473+33965G>T | ||
| NM_000905.4:c.152C>A MANE Select | NP_000896.1:p.Ala51Glu |