Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94489932A>C , CM000663.2:g.94489932A>C | GRCh38 |
| NC_000001.10:g.94955488A>C , CM000663.1:g.94955488A>C | GRCh37 |
| NC_000001.9:g.94728076A>C | NCBI36 |
| NG_008865.1:g.76556A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002858.4:c.1279A>C MANE Select | NP_002849.1:p.Ile427Leu |
| ENST00000370214.9:c.1279A>C MANE Select | ENSP00000359233.4:p.Ile427Leu |
| NM_002858.3:c.1279A>C | NP_002849.1:p.Ile427Leu |
| ENST00000370214.8:c.1279A>C | ENSP00000359233.4:p.Ile427Leu |
| ENST00000484213.1:n.2129A>C | |
| ENST00000647998.2:c.1279A>C | ENSP00000497921.2:p.Ile427Leu |
| XM_005271089.2:c.1186A>C | XP_005271146.1:p.Ile396Leu |
| XM_006710802.2:c.1351A>C | XP_006710865.2:p.Ile451Leu |
| XM_011541877.1:c.343A>C | XP_011540179.1:p.Ile115Leu |