Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928668G>A , CM000685.2:g.154928668G>A | GRCh38 |
| NC_000023.10:g.154156943G>A , CM000685.1:g.154156943G>A | GRCh37 |
| NC_000023.9:g.153810137G>A | NCBI36 |
| NG_011403.1:g.99056C>T | |
| NG_011403.2:g.99056C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.5122C>T MANE Select | NP_000123.1:p.Arg1708Cys |
| ENST00000360256.9:c.5122C>T MANE Select | ENSP00000353393.4:p.Arg1708Cys |
| NM_000132.3:c.5122C>T | NP_000123.1:p.Arg1708Cys |
| ENST00000360256.8:c.5122C>T | ENSP00000353393.4:p.Arg1708Cys |
| XM_011531126.1:c.5017C>T | XP_011529428.1:p.Arg1673Cys |