Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42962963C= , CM000666.2:g.42962963C= | GRCh38 |
| NC_000004.11:g.42964980C= , CM000666.1:g.42964980C= | GRCh37 |
| NC_000004.10:g.42659737C= | NCBI36 |
| NG_027718.1:g.74698C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.456C= MANE Select | ENSP00000382670.2:p.Thr152= | |
| ENST00000399770.2:c.456C= | ENSP00000382670.2:p.Thr152= | |
| NM_001080476.2:c.456C= | NP_001073945.1:p.Thr152= | |
| XM_011513691.1:c.93C= | XP_011511993.1:p.Thr31= | |
| NM_001080476.3:c.456C= MANE Select | NP_001073945.1:p.Thr152= |