Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46705756T>C , CM000673.2:g.46705756T>C | GRCh38 |
| NC_000011.9:g.46727306T>C , CM000673.1:g.46727306T>C | GRCh37 |
| NC_000011.8:g.46683882T>C | NCBI36 |
| NG_052967.1:g.9990T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024741.3:c.2056T>C MANE Select | NP_079017.1:p.Phe686Leu |
| ENST00000311764.3:c.2056T>C MANE Select | ENSP00000309606.2:p.Phe686Leu |
| NM_001184751.1:c.2032T>C | NP_001171680.1:p.Phe678Leu |
| NM_001184751.2:c.2032T>C | NP_001171680.1:p.Phe678Leu |
| NM_024741.2:c.2056T>C | NP_079017.1:p.Phe686Leu |
| ENST00000311764.2:c.2056T>C | ENSP00000309606.2:p.Phe686Leu |