Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40644533C>T , CM000675.2:g.40644533C>T | GRCh38 |
| NC_000013.10:g.41218670C>T , CM000675.1:g.41218670C>T | GRCh37 |
| NC_000013.9:g.40116670C>T | NCBI36 |
| NG_023244.1:g.27065G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002015.4:c.630+21050G>A MANE Select | NP_002006.2:n.630+21050G>A |
| ENST00000379561.6:c.630+21050G>A MANE Select | ENSP00000368880.4:n.630+21050G>A |
| NM_002015.3:c.630+21050G>A | NP_002006.2:n.630+21050G>A |
| ENST00000379561.5:c.630+21050G>A | ENSP00000368880.4:n.630+21050G>A |
| ENST00000655267.1:n.333+21050G>A | |
| ENST00000660760.1:n.296-11285G>A | |
| XR_941536.1:n.1226+806G>A |