Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2306706T>C , CM000663.2:g.2306706T>C | GRCh38 |
| NC_000001.10:g.2238145T>C , CM000663.1:g.2238145T>C | GRCh37 |
| NC_000001.9:g.2228005T>C | NCBI36 |
| NG_013084.1:g.83012T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003036.4:c.2128T>C MANE Select | NP_003027.1:p.Trp710Arg |
| ENST00000378536.5:c.2128T>C MANE Select | ENSP00000367797.4:p.Trp710Arg |
| NM_003036.3:c.2128T>C | NP_003027.1:p.Trp710Arg |
| ENST00000378536.4:c.2128T>C | ENSP00000367797.4:p.Trp710Arg |
| XM_005244775.2:c.2134T>C | XP_005244832.1:p.Trp712Arg |
| XM_005244775.3:c.2134T>C | XP_005244832.1:p.Trp712Arg |
| XM_005244776.3:c.1264T>C | XP_005244833.1:p.Trp422Arg |
| XM_005244776.4:c.1264T>C | XP_005244833.1:p.Trp422Arg |
| XM_017002128.1:c.1642T>C | XP_016857617.1:p.Trp548Arg |