Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42001654A>C , CM000666.2:g.42001654A>C | GRCh38 |
| NC_000004.11:g.42003671A>C , CM000666.1:g.42003671A>C | GRCh37 |
| NC_000004.10:g.41698428A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006345.4:c.148A>C MANE Select | NP_006336.3:p.Met50Leu |
| ENST00000264451.12:c.148A>C MANE Select | ENSP00000264451.6:p.Met50Leu |
| NM_006345.3:c.148A>C | NP_006336.3:p.Met50Leu |
| ENST00000264451.11:c.148A>C | ENSP00000264451.6:p.Met50Leu |
| ENST00000510460.1:n.273A>C | |
| ENST00000513699.5:c.148A>C | ENSP00000423529.1:p.Met50Leu |
| XM_011513620.1:c.148A>C | XP_011511922.1:p.Met50Leu |
| XM_017007654.2:c.148A>C | XP_016863143.1:p.Met50Leu |
| XR_001741095.2:n.298A>C |