Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214622041T= , CM000663.2:g.214622041T= | GRCh38 |
| NC_000001.10:g.214795384T= , CM000663.1:g.214795384T= | GRCh37 |
| NC_000001.9:g.212862007T= | NCBI36 |
| NG_046787.1:g.23863T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706764.1:n.1044-38T= | ||
| ENST00000706765.1:c.866-38T= | ENSP00000516538.1:n.866-38T= | |
| ENST00000366955.8:c.866-38T= MANE Select | ENSP00000355922.3:n.866-38T= | |
| ENST00000366955.7:c.866-38T= | ENSP00000355922.3:n.866-38T= | |
| NM_016343.3:c.866-38T= | NP_057427.3:n.866-38T= | |
| XM_011509082.1:c.866-38T= | XP_011507384.1:n.866-38T= | |
| XM_011509082.3:c.866-38T= | XP_011507384.1:n.866-38T= | |
| XM_017000086.2:c.866-38T= | XP_016855575.1:n.866-38T= | |
| NM_016343.4:c.866-38T= MANE Select | NP_057427.3:n.866-38T= |