Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.50250978T>A , CM000680.2:g.50250978T>A | GRCh38 |
| NC_000018.9:g.47777348T>A , CM000680.1:g.47777348T>A | GRCh37 |
| NC_000018.8:g.46031346T>A | NCBI36 |
| NG_042815.1:g.20545A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398545.5:c.778-2A>T MANE Select | ENSP00000381553.3:n.778-2A>T | |
| ENST00000398545.4:c.778-2A>T | ENSP00000381553.3:n.778-2A>T | |
| NM_145020.3:c.778-2A>T | NP_659457.2:n.778-2A>T | |
| NM_145020.4:c.778-2A>T | NP_659457.2:n.778-2A>T | |
| XM_024451100.1:c.181-2A>T | XP_024306868.1:n.181-2A>T | |
| NM_145020.5:c.778-2A>T MANE Select | NP_659457.2:n.778-2A>T |