Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42001654A= , CM000666.2:g.42001654A= | GRCh38 |
| NC_000004.11:g.42003671A= , CM000666.1:g.42003671A= | GRCh37 |
| NC_000004.10:g.41698428A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006345.4:c.148A= MANE Select | NP_006336.3:p.Met50= |
| ENST00000264451.12:c.148A= MANE Select | ENSP00000264451.6:p.Met50= |
| NM_006345.3:c.148A= | NP_006336.3:p.Met50= |
| ENST00000264451.11:c.148A= | ENSP00000264451.6:p.Met50= |
| ENST00000510460.1:n.273A= | |
| ENST00000513699.5:c.148A= | ENSP00000423529.1:p.Met50= |
| XM_011513620.1:c.148A= | XP_011511922.1:p.Met50= |
| XM_017007654.2:c.148A= | XP_016863143.1:p.Met50= |
| XR_001741095.2:n.298A= |