Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046402G>T , CM000667.2:g.136046402G>T | GRCh38 |
| NC_000005.9:g.135382091G>T , CM000667.1:g.135382091G>T | GRCh37 |
| NC_000005.8:g.135409990G>T | NCBI36 |
| NG_012646.1:g.22508G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.366G>T MANE Select | ENSP00000416330.2:p.Thr122= | |
| ENST00000442011.6:c.366G>T | ENSP00000416330.2:p.Thr122= | |
| ENST00000504185.5:n.523G>T | ||
| ENST00000506699.5:n.431G>T | ||
| ENST00000507018.5:c.283G>T | ||
| ENST00000515433.1:n.658G>T | ||
| NM_000358.2:c.366G>T | NP_000349.1:p.Thr122= | |
| NM_000358.3:c.366G>T MANE Select | NP_000349.1:p.Thr122= |