Linked Data
dbSNP Id:
rs45626438
ExAC:
6:31239061 C / A
gnomAD v3:
6-31271284-C-A
gnomAD v4:
6-31271284-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271284C>A , CM000668.2:g.31271284C>A | GRCh38 |
| NC_000006.11:g.31239061C>A , CM000668.1:g.31239061C>A | GRCh37 |
| NC_000006.10:g.31347040C>A | NCBI36 |
| NG_029422.2:g.5848G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.408G>T MANE Select | ENSP00000365402.5:p.Gly136= | |
| ENST00000376228.9:c.408G>T | ENSP00000365402.5:p.Gly136= | |
| ENST00000376237.8:c.391G>T | ENSP00000365412.4:p.Val131Leu | |
| ENST00000383329.7:c.408G>T | ENSP00000372819.3:p.Gly136= | |
| ENST00000415537.1:c.406G>T | ||
| ENST00000484378.1:n.677G>T | ||
| ENST00000487245.5:n.767G>T | ||
| ENST00000495835.1:n.597G>T | ||
| NM_002117.5:c.408G>T | NP_002108.4:p.Gly136= | |
| NM_002117.6:c.408G>T MANE Select | NP_002108.4:p.Gly136= |