Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11964227T>C , CM000663.2:g.11964227T>C | GRCh38 |
| NC_000001.10:g.12024284T>C , CM000663.1:g.12024284T>C | GRCh37 |
| NC_000001.9:g.11946871T>C | NCBI36 |
| NG_008159.1:g.34539T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1255T>C MANE Select | ENSP00000196061.4:p.Trp419Arg | |
| ENST00000196061.4:c.1255T>C | ENSP00000196061.4:p.Trp419Arg | |
| NM_000302.3:c.1255T>C | NP_000293.2:p.Trp419Arg | |
| NM_001316320.1:c.1396T>C | NP_001303249.1:p.Trp466Arg | |
| XM_011541594.1:c.1336T>C | XP_011539896.1:p.Trp446Arg | |
| XM_024447707.1:c.589T>C | XP_024303475.1:p.Trp197Arg | |
| NM_000302.4:c.1255T>C MANE Select | NP_000293.2:p.Trp419Arg | |
| NM_001316320.2:c.1396T>C | NP_001303249.1:p.Trp466Arg |