Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91950010G= , CM000671.2:g.91950010G= | GRCh38 |
| NC_000009.11:g.94712292G= , CM000671.1:g.94712292G= | GRCh37 |
| NC_000009.10:g.93752113G= | NCBI36 |
| NG_008089.1:g.5153C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.-47C= MANE Select | ENSP00000364860.3:n.-47C= | |
| ENST00000375708.3:c.-47C= | ENSP00000364860.3:n.-47C= | |
| NM_004560.3:c.-47C= | NP_004551.2:n.-47C= | |
| NM_001318204.1:c.-47C= | NP_001305133.1:n.-47C= | |
| XR_001746315.1:n.197C= | ||
| NM_004560.4:c.-47C= MANE Select | NP_004551.2:n.-47C= | |
| NM_001318204.2:c.-47C= | NP_001305133.1:n.-47C= |