Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.119189810A>G , CM000668.2:g.119189810A>G | GRCh38 |
| NC_000006.11:g.119510975A>G , CM000668.1:g.119510975A>G | GRCh37 |
| NC_000006.10:g.119552674A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005907.4:c.1400T>C MANE Select | NP_005898.2:p.Leu467Pro |
| ENST00000368468.4:c.1400T>C MANE Select | ENSP00000357453.3:p.Leu467Pro |
| NM_005907.3:c.1400T>C | NP_005898.2:p.Leu467Pro |
| ENST00000368468.3:c.1400T>C | ENSP00000357453.3:p.Leu467Pro |
| XM_005266986.3:c.1649T>C | XP_005267043.1:p.Leu550Pro |
| XM_005266986.4:c.1649T>C | XP_005267043.1:p.Leu550Pro |
| XM_011535833.1:c.833T>C | XP_011534135.1:p.Leu278Pro |
| XM_011535833.2:c.833T>C | XP_011534135.1:p.Leu278Pro |
| XR_001743420.1:n.1619T>C |