Linked Data
dbSNP Id:
rs41559915
ExAC:
6:31237275 G / A
gnomAD v2:
6-31237275-G-A
gnomAD v3:
6-31269498-G-A
gnomAD v4:
6-31269498-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269498G>A , CM000668.2:g.31269498G>A | GRCh38 |
| NC_000006.11:g.31237275G>A , CM000668.1:g.31237275G>A | GRCh37 |
| NC_000006.10:g.31345254G>A | NCBI36 |
| NG_029422.2:g.7634C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.1043C>T MANE Select | ENSP00000365402.5:p.Ala348Val | |
| ENST00000376228.9:c.1043C>T | ENSP00000365402.5:p.Ala348Val | |
| ENST00000376237.8:c.*630C>T | ENSP00000365412.4:n.*630C>T | |
| ENST00000383329.7:c.1061C>T | ENSP00000372819.3:p.Ala354Val | |
| ENST00000466892.5:n.169C>T | ||
| ENST00000470363.5:n.801C>T | ||
| ENST00000487245.5:n.1402C>T | ||
| NM_002117.5:c.1043C>T | NP_002108.4:p.Ala348Val | |
| NM_002117.6:c.1043C>T MANE Select | NP_002108.4:p.Ala348Val |