Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137200242G>C , CM000671.2:g.137200242G>C | GRCh38 |
| NC_000009.11:g.140094694G>C , CM000671.1:g.140094694G>C | GRCh37 |
| NC_000009.10:g.139214515G>C | NCBI36 |
| NG_027801.1:g.5470C>G | |
| NG_027801.2:g.8952C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001128228.3:c.470C>G MANE Select | NP_001121700.2:p.Pro157Arg |
| ENST00000409012.6:c.470C>G MANE Select | ENSP00000387100.4:p.Pro157Arg |
| NM_001128228.2:c.470C>G | NP_001121700.2:p.Pro157Arg |
| ENST00000409012.4:c.470C>G | ENSP00000387100.4:p.Pro157Arg |
| ENST00000541945.1:n.90+3862C>G |