Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.140152975A>G , CM000666.2:g.140152975A>G | GRCh38 |
| NC_000004.11:g.141074129A>G , CM000666.1:g.141074129A>G | GRCh37 |
| NC_000004.10:g.141293579A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018717.5:c.353T>C MANE Select | NP_061187.3:p.Leu118Pro |
| ENST00000509479.6:c.353T>C MANE Select | ENSP00000421180.1:p.Leu118Pro |
| NM_018717.4:c.353T>C | NP_061187.2:p.Leu118Pro |