Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812282G>C , CM000664.2:g.218812282G>C | GRCh38 |
| NC_000002.11:g.219677005G>C , CM000664.1:g.219677005G>C | GRCh37 |
| NC_000002.10:g.219385249G>C | NCBI36 |
| NG_007959.1:g.35534G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.507G>C MANE Select | NP_000775.1:p.Ala169= |
| ENST00000258415.9:c.507G>C MANE Select | ENSP00000258415.4:p.Ala169= |
| NM_000784.3:c.507G>C | NP_000775.1:p.Ala169= |
| ENST00000258415.8:c.507G>C | ENSP00000258415.4:p.Ala169= |
| ENST00000411688.1:c.225G>C | ENSP00000392671.1:p.Ala75= |
| ENST00000445971.1:c.316G>C | ENSP00000404945.1:p.Gly106Arg |
| ENST00000466602.1:n.325G>C | |
| ENST00000494263.5:n.941G>C | |
| XM_017003488.2:c.87G>C | XP_016858977.1:p.Ala29= |