Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29920065C>A , CM000664.2:g.29920065C>A | GRCh38 |
| NC_000002.11:g.30142931C>A , CM000664.1:g.30142931C>A | GRCh37 |
| NC_000002.10:g.29996435C>A | NCBI36 |
| NG_009445.1:g.6502G>T , LRG_488:g.6502G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.595G>T MANE Select | NP_004295.2:p.Gly199Cys |
| ENST00000389048.8:c.595G>T MANE Select | ENSP00000373700.3:p.Gly199Cys |
| NM_004304.4:c.595G>T | NP_004295.2:p.Gly199Cys |
| ENST00000389048.7:c.595G>T | ENSP00000373700.3:p.Gly199Cys |
| XR_001738688.2:n.1525G>T |