Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367839C>G , CM000677.2:g.73367839C>G | GRCh38 |
| NC_000015.9:g.73660180C>G , CM000677.1:g.73660180C>G | GRCh37 |
| NC_000015.8:g.71447233C>G | NCBI36 |
| NG_009063.1:g.6426G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.432G>C MANE Select | ENSP00000261917.3:p.Thr144= | |
| ENST00000261917.3:c.432G>C | ENSP00000261917.3:p.Thr144= | |
| NM_005477.2:c.432G>C | NP_005468.1:p.Thr144= | |
| NM_005477.3:c.432G>C MANE Select | NP_005468.1:p.Thr144= |