Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182579884A= , CM000663.2:g.182579884A= | GRCh38 |
| NC_000001.10:g.182549019A= , CM000663.1:g.182549019A= | GRCh37 |
| NC_000001.9:g.180815642A= | NCBI36 |
| NG_009024.2:g.12090T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367559.7:c.1905+1341T= MANE Select | ENSP00000356530.3:n.1905+1341T= | |
| ENST00000539397.1:c.*70T= | ENSP00000440844.1:n.*70T= | |
| NM_021133.3:c.1905+1341T= | NP_066956.1:n.1905+1341T= | |
| XM_005245411.2:c.*70T= | XP_005245468.1:n.*70T= | |
| XR_001737359.1:n.2238+74T= | ||
| XR_001737360.1:n.2312T= | ||
| NM_021133.4:c.1905+1341T= MANE Select | NP_066956.1:n.1905+1341T= |