Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26728260G>T , CM000664.2:g.26728260G>T | GRCh38 |
| NC_000002.11:g.26951128G>T , CM000664.1:g.26951128G>T | GRCh37 |
| NC_000002.10:g.26804632G>T | NCBI36 |
| NG_033884.1:g.40548G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302909.4:c.877G>T MANE Select | ENSP00000306275.3:p.Gly293Cys | |
| ENST00000302909.3:c.877G>T | ENSP00000306275.3:p.Gly293Cys | |
| ENST00000620977.1:c.508G>T | ENSP00000483136.1:p.Gly170Cys | |
| NM_002246.2:c.877G>T | NP_002237.1:p.Gly293Cys | |
| XM_005264293.1:c.547G>T | XP_005264350.1:p.Gly183Cys | |
| XM_005264293.2:c.547G>T | XP_005264350.1:p.Gly183Cys | |
| NM_002246.3:c.877G>T MANE Select | NP_002237.1:p.Gly293Cys |