Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45480250G>A , CM000677.2:g.45480250G>A | GRCh38 |
| NC_000015.9:g.45772448G>A , CM000677.1:g.45772448G>A | GRCh37 |
| NC_000015.8:g.43559740G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013309.6:c.*4913C>T MANE Select | NP_037441.2:n.*4913C>T |
| ENST00000261867.5:c.*4913C>T MANE Select | ENSP00000261867.3:n.*4913C>T |
| NM_013309.5:c.*4913C>T | NP_037441.2:n.*4913C>T |
| ENST00000261867.4:c.*4913C>T | ENSP00000261867.3:n.*4913C>T |