Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141193133T>C , CM000667.2:g.141193133T>C | GRCh38 |
| NC_000005.9:g.140572706T>C , CM000667.1:g.140572706T>C | GRCh37 |
| NC_000005.8:g.140552890T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018930.4:c.581T>C MANE Select | NP_061753.1:p.Leu194Pro |
| ENST00000239446.6:c.581T>C MANE Select | ENSP00000239446.4:p.Leu194Pro |
| NM_018930.3:c.581T>C | NP_061753.1:p.Leu194Pro |
| ENST00000239446.5:c.581T>C | ENSP00000239446.4:p.Leu194Pro |
| ENST00000515856.4:c.581T>C | ENSP00000444518.3:p.Leu194Pro |