Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45480107T>C , CM000677.2:g.45480107T>C | GRCh38 |
| NC_000015.9:g.45772305T>C , CM000677.1:g.45772305T>C | GRCh37 |
| NC_000015.8:g.43559597T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261867.5:c.*5056A>G MANE Select | ENSP00000261867.3:n.*5056A>G | |
| ENST00000261867.4:c.*5056A>G | ENSP00000261867.3:n.*5056A>G | |
| NM_013309.5:c.*5056A>G | NP_037441.2:n.*5056A>G | |
| NM_013309.6:c.*5056A>G MANE Select | NP_037441.2:n.*5056A>G |