Linked Data
dbSNP Id:
rs1050326
ExAC:
6:31238147 C / A
gnomAD v2:
6-31238147-C-A
gnomAD v3:
6-31270370-C-A
gnomAD v4:
6-31270370-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270370C>A , CM000668.2:g.31270370C>A | GRCh38 |
| NC_000006.11:g.31238147C>A , CM000668.1:g.31238147C>A | GRCh37 |
| NC_000006.10:g.31346126C>A | NCBI36 |
| NG_029422.2:g.6762G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.735G>T MANE Select | ENSP00000365402.5:p.Gly245= | |
| ENST00000376228.9:c.735G>T | ENSP00000365402.5:p.Gly245= | |
| ENST00000376237.8:c.*322G>T | ENSP00000365412.4:n.*322G>T | |
| ENST00000383329.7:c.735G>T | ENSP00000372819.3:p.Gly245= | |
| ENST00000415537.1:c.665-39G>T | ||
| ENST00000470363.5:n.53G>T | ||
| ENST00000487245.5:n.1094G>T | ||
| ENST00000495835.1:n.924G>T | ||
| NM_002117.5:c.735G>T | NP_002108.4:p.Gly245= | |
| NM_002117.6:c.735G>T MANE Select | NP_002108.4:p.Gly245= |