Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205795512G= , CM000663.2:g.205795512G= | GRCh38 |
| NC_000001.10:g.205764640G= , CM000663.1:g.205764640G= | GRCh37 |
| NC_000001.9:g.204031263G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367137.4:c.1073-34C= MANE Select | ENSP00000356105.3:n.1073-34C= | |
| ENST00000367137.3:c.1073-34C= | ENSP00000356105.3:n.1073-34C= | |
| ENST00000468057.5:n.869-34C= | ||
| ENST00000484228.1:n.1105C= | ||
| NM_173854.5:c.1073-34C= | NP_776253.3:n.1073-34C= | |
| XM_005245069.1:c.1073-34C= | XP_005245126.1:n.1073-34C= | |
| XM_005245069.2:c.1073-34C= | XP_005245126.1:n.1073-34C= | |
| NM_173854.6:c.1073-34C= MANE Select | NP_776253.3:n.1073-34C= |