Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40644663G>T , CM000675.2:g.40644663G>T | GRCh38 |
| NC_000013.10:g.41218800G>T , CM000675.1:g.41218800G>T | GRCh37 |
| NC_000013.9:g.40116800G>T | NCBI36 |
| NG_023244.1:g.26935C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379561.6:c.630+20920C>A MANE Select | ENSP00000368880.4:n.630+20920C>A | |
| ENST00000655267.1:n.333+20920C>A | ||
| ENST00000660760.1:n.296-11415C>A | ||
| ENST00000379561.5:c.630+20920C>A | ENSP00000368880.4:n.630+20920C>A | |
| NM_002015.3:c.630+20920C>A | NP_002006.2:n.630+20920C>A | |
| XR_941536.1:n.1226+676C>A | ||
| NM_002015.4:c.630+20920C>A MANE Select | NP_002006.2:n.630+20920C>A |