Linked Data
dbSNP Id:
rs766431051
ExAC:
7:27135156 A / C
gnomAD v2:
7-27135156-A-C
gnomAD v4:
7-27095537-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095537A>C , CM000669.2:g.27095537A>C | GRCh38 |
| NC_000007.13:g.27135156A>C , CM000669.1:g.27135156A>C | GRCh37 |
| NC_000007.12:g.27101681A>C | NCBI36 |
| NG_011813.1:g.5470T>G | |
| NG_033087.1:g.4444A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.376T>G MANE Select | ENSP00000494260.2:p.Cys126Gly | |
| ENST00000343060.4:c.376T>G | ENSP00000343246.4:p.Cys126Gly | |
| ENST00000355633.5:c.354+22T>G | ENSP00000347851.5:n.354+22T>G | |
| NM_005522.4:c.376T>G | NP_005513.1:p.Cys126Gly | |
| NM_153620.2:c.354+22T>G | NP_705873.2:n.354+22T>G | |
| NM_005522.5:c.376T>G MANE Select | NP_005513.2:p.Cys126Gly | |
| NM_153620.3:c.354+22T>G | NP_705873.3:n.354+22T>G |