Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29920406G>A , CM000664.2:g.29920406G>A | GRCh38 |
| NC_000002.11:g.30143272G>A , CM000664.1:g.30143272G>A | GRCh37 |
| NC_000002.10:g.29996776G>A | NCBI36 |
| NG_009445.1:g.6161C>T , LRG_488:g.6161C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.254C>T MANE Select | NP_004295.2:p.Pro85Leu |
| ENST00000389048.8:c.254C>T MANE Select | ENSP00000373700.3:p.Pro85Leu |
| NM_004304.4:c.254C>T | NP_004295.2:p.Pro85Leu |
| ENST00000389048.7:c.254C>T | ENSP00000373700.3:p.Pro85Leu |
| XR_001738688.2:n.1184C>T |