Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54758071G>C , CM000663.2:g.54758071G>C | GRCh38 |
| NC_000001.10:g.55223744G>C , CM000663.1:g.55223744G>C | GRCh37 |
| NC_000001.9:g.54996332G>C | NCBI36 |
| NG_042048.1:g.11483C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152268.4:c.1091C>G MANE Select | NP_689481.2:p.Pro364Arg |
| ENST00000371279.4:c.1091C>G MANE Select | ENSP00000360327.3:p.Pro364Arg |
| NM_152268.3:c.1091C>G | NP_689481.2:p.Pro364Arg |
| ENST00000371279.3:c.1091C>G | ENSP00000360327.3:p.Pro364Arg |
| XM_011541203.1:c.1268C>G | XP_011539505.1:p.Pro423Arg |