Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812266G>C , CM000664.2:g.218812266G>C | GRCh38 |
| NC_000002.11:g.219676989G>C , CM000664.1:g.219676989G>C | GRCh37 |
| NC_000002.10:g.219385233G>C | NCBI36 |
| NG_007959.1:g.35518G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.491G>C MANE Select | NP_000775.1:p.Arg164Pro |
| ENST00000258415.9:c.491G>C MANE Select | ENSP00000258415.4:p.Arg164Pro |
| NM_000784.3:c.491G>C | NP_000775.1:p.Arg164Pro |
| ENST00000258415.8:c.491G>C | ENSP00000258415.4:p.Arg164Pro |
| ENST00000411688.1:c.209G>C | ENSP00000392671.1:p.Arg70Pro |
| ENST00000445971.1:c.300G>C | ENSP00000404945.1:p.Ala100= |
| ENST00000466602.1:n.309G>C | |
| ENST00000494263.5:n.925G>C | |
| XM_017003488.2:c.71G>C | XP_016858977.1:p.Arg24Pro |