Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8732093C= , CM000685.2:g.8732093C= | GRCh38 |
| NC_000023.10:g.8700134C= , CM000685.1:g.8700134C= | GRCh37 |
| NC_000023.9:g.8660134C= | NCBI36 |
| NG_007088.1:g.5094G= | |
| NG_007088.2:g.5094G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.-57G= MANE Select | ENSP00000262648.3:n.-57G= | |
| ENST00000262648.7:c.-57G= | ENSP00000262648.3:n.-57G= | |
| ENST00000619786.1:c.-57G= | ENSP00000478734.1:n.-57G= | |
| NM_000216.2:c.-57G= | NP_000207.2:n.-57G= | |
| XM_005274501.3:c.-57G= | XP_005274558.1:n.-57G= | |
| NM_000216.3:c.-57G= | NP_000207.2:n.-57G= | |
| XM_005274501.4:c.-57G= | XP_005274558.1:n.-57G= | |
| NM_000216.4:c.-57G= MANE Select | NP_000207.2:n.-57G= |