Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68446837C>G , CM000663.2:g.68446837C>G | GRCh38 |
| NC_000001.10:g.68912520C>G , CM000663.1:g.68912520C>G | GRCh37 |
| NC_000001.9:g.68685108C>G | NCBI36 |
| NG_008472.1:g.8123G>C | |
| NG_008472.2:g.8123G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.118G>C MANE Select | NP_000320.1:p.Gly40Arg |
| ENST00000262340.6:c.118G>C MANE Select | ENSP00000262340.5:p.Gly40Arg |
| NM_000329.2:c.118G>C | NP_000320.1:p.Gly40Arg |
| ENST00000262340.5:c.118G>C | ENSP00000262340.5:p.Gly40Arg |
| XM_017002027.1:c.-32+1787G>C | XP_016857516.1:n.-32+1787G>C |