Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94080540T>G , CM000663.2:g.94080540T>G | GRCh38 |
| NC_000001.10:g.94546096T>G , CM000663.1:g.94546096T>G | GRCh37 |
| NC_000001.9:g.94318684T>G | NCBI36 |
| NG_009073.1:g.45610A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1037A>C MANE Select | ENSP00000359245.3:p.Lys346Thr | |
| ENST00000649773.1:c.1037A>C | ENSP00000496882.1:p.Lys346Thr | |
| ENST00000370225.3:c.1037A>C | ENSP00000359245.3:p.Lys346Thr | |
| NM_000350.2:c.1037A>C | NP_000341.2:p.Lys346Thr | |
| NM_000350.3:c.1037A>C MANE Select | NP_000341.2:p.Lys346Thr |