Linked Data
dbSNP Id:
rs281860558
ExAC:
6:31238178 G / A
gnomAD v2:
6-31238178-G-A
gnomAD v4:
6-31270401-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270401G>A , CM000668.2:g.31270401G>A | GRCh38 |
| NC_000006.11:g.31238178G>A , CM000668.1:g.31238178G>A | GRCh37 |
| NC_000006.10:g.31346157G>A | NCBI36 |
| NG_029422.2:g.6731C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.704C>T MANE Select | ENSP00000365402.5:p.Ala235Val | |
| ENST00000376228.9:c.704C>T | ENSP00000365402.5:p.Ala235Val | |
| ENST00000376237.8:c.*291C>T | ENSP00000365412.4:n.*291C>T | |
| ENST00000383329.7:c.704C>T | ENSP00000372819.3:p.Ala235Val | |
| ENST00000415537.1:c.664+38C>T | ||
| ENST00000470363.5:n.22C>T | ||
| ENST00000487245.5:n.1063C>T | ||
| ENST00000495835.1:n.893C>T | ||
| NM_002117.5:c.704C>T | NP_002108.4:p.Ala235Val | |
| NM_002117.6:c.704C>T MANE Select | NP_002108.4:p.Ala235Val |