Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40784037G= , CM000663.2:g.40784037G= | GRCh38 |
| NC_000001.10:g.41249709G= , CM000663.1:g.41249709G= | GRCh37 |
| NC_000001.9:g.41022296G= | NCBI36 |
| NG_008139.1:g.5026G= | |
| NG_008139.2:g.5026G= | |
| NG_008139.3:g.5251G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.-57G= MANE Select | ENSP00000262916.6:n.-57G= | |
| ENST00000347132.9:c.-57G= | ENSP00000262916.6:n.-57G= | |
| NM_004700.3:c.-57G= | NP_004691.2:n.-57G= | |
| NM_172163.2:c.-57G= | NP_751895.1:n.-57G= | |
| NM_004700.4:c.-57G= MANE Select | NP_004691.2:n.-57G= | |
| NM_172163.3:c.-57G= | NP_751895.1:n.-57G= |