Linked Data
dbSNP Id:
rs281860527
ExAC:
6:31238905 G / A
gnomAD v2:
6-31238905-G-A
gnomAD v3:
6-31271128-G-A
gnomAD v4:
6-31271128-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271128G>A , CM000668.2:g.31271128G>A | GRCh38 |
| NC_000006.11:g.31238905G>A , CM000668.1:g.31238905G>A | GRCh37 |
| NC_000006.10:g.31346884G>A | NCBI36 |
| NG_029422.2:g.6004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.564C>T MANE Select | ENSP00000365402.5:p.Cys188= | |
| ENST00000376228.9:c.564C>T | ENSP00000365402.5:p.Cys188= | |
| ENST00000376237.8:c.*151C>T | ENSP00000365412.4:n.*151C>T | |
| ENST00000383329.7:c.564C>T | ENSP00000372819.3:p.Cys188= | |
| ENST00000415537.1:c.562C>T | ||
| ENST00000484378.1:n.833C>T | ||
| ENST00000487245.5:n.923C>T | ||
| ENST00000495835.1:n.753C>T | ||
| NM_002117.5:c.564C>T | NP_002108.4:p.Cys188= | |
| NM_002117.6:c.564C>T MANE Select | NP_002108.4:p.Cys188= |