Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64759117T>C , CM000674.2:g.64759117T>C | GRCh38 |
| NC_000012.11:g.65152897T>C , CM000674.1:g.65152897T>C | GRCh37 |
| NC_000012.10:g.63439164T>C | NCBI36 |
| NG_008955.1:g.5330A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002076.4:c.160A>G MANE Select | NP_002067.1:p.Thr54Ala |
| ENST00000258145.8:c.160A>G MANE Select | ENSP00000258145.3:p.Thr54Ala |
| NM_002076.3:c.160A>G | NP_002067.1:p.Thr54Ala |
| ENST00000258145.7:c.160A>G | ENSP00000258145.3:p.Thr54Ala |
| ENST00000542058.5:c.160A>G | ENSP00000444819.1:p.Thr54Ala |
| ENST00000543646.5:c.160A>G | ENSP00000438497.1:p.Thr54Ala |