Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94055152A>G , CM000663.2:g.94055152A>G | GRCh38 |
| NC_000001.10:g.94520708A>G , CM000663.1:g.94520708A>G | GRCh37 |
| NC_000001.9:g.94293296A>G | NCBI36 |
| NG_009073.1:g.70998T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.2546T>C MANE Select | NP_000341.2:p.Val849Ala |
| ENST00000370225.4:c.2546T>C MANE Select | ENSP00000359245.3:p.Val849Ala |
| NM_000350.2:c.2546T>C | NP_000341.2:p.Val849Ala |
| ENST00000370225.3:c.2546T>C | ENSP00000359245.3:p.Val849Ala |
| ENST00000536513.5:c.-65+8022T>C | ENSP00000439707.2:n.-65+8022T>C |
| ENST00000649773.1:c.2324T>C | ENSP00000496882.1:p.Val775Ala |