Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165408315G>C , CM000663.2:g.165408315G>C | GRCh38 |
| NC_000001.10:g.165377552G>C , CM000663.1:g.165377552G>C | GRCh37 |
| NC_000001.9:g.163644176G>C | NCBI36 |
| NG_029517.1:g.42041C>G | |
| NG_029517.2:g.42041C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006917.5:c.1050C>G MANE Select | NP_008848.1:p.Val350= |
| ENST00000359842.10:c.1050C>G MANE Select | ENSP00000352900.5:p.Val350= |
| NM_001256570.1:c.681C>G | NP_001243499.1:p.Val227= |
| NM_001256570.2:c.681C>G | NP_001243499.1:p.Val227= |
| NM_001256571.1:c.681C>G | NP_001243500.1:p.Val227= |
| NM_001256571.2:c.681C>G | NP_001243500.1:p.Val227= |
| NM_006917.4:c.1050C>G | NP_008848.1:p.Val350= |
| ENST00000359842.9:c.1050C>G | ENSP00000352900.5:p.Val350= |
| ENST00000619224.1:c.681C>G | ENSP00000482458.1:p.Val227= |