Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018913C>G , CM000663.2:g.17018913C>G | GRCh38 |
| NC_000001.10:g.17345408C>G , CM000663.1:g.17345408C>G | GRCh37 |
| NC_000001.9:g.17217995C>G | NCBI36 |
| NG_012340.1:g.40258G>C , LRG_316:g.40258G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.811G>C MANE Select | NP_002991.2:p.Ala271Pro |
| ENST00000375499.8:c.811G>C MANE Select | ENSP00000364649.3:p.Ala271Pro |
| NM_003000.2:c.811G>C , LRG_316t1:c.811G>C | NP_002991.2:p.Ala271Pro |
| ENST00000375499.7:c.811G>C | ENSP00000364649.3:p.Ala271Pro |
| ENST00000463045.3:c.640G>C | ENSP00000481376.2:p.Ala214Pro |
| ENST00000475049.5:n.236G>C | |
| ENST00000485092.5:n.475G>C | |
| ENST00000491274.6:c.769G>C | ENSP00000480482.2:p.Ala257Pro |