Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313734T>C , CM000672.2:g.30313734T>C | GRCh38 |
| NC_000010.10:g.30602663T>C , CM000672.1:g.30602663T>C | GRCh37 |
| NC_000010.9:g.30642669T>C | NCBI36 |
| NG_028096.1:g.40605A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018109.4:c.1624A>G MANE Select | NP_060579.3:p.Thr542Ala |
| ENST00000263063.9:c.1624A>G MANE Select | ENSP00000263063.3:p.Thr542Ala |
| NM_018109.3:c.1624A>G | NP_060579.3:p.Thr542Ala |
| ENST00000263063.8:c.1624A>G | ENSP00000263063.3:p.Thr542Ala |
| ENST00000488290.5:n.3379A>G |