Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.207767904A>C , CM000664.2:g.207767904A>C | GRCh38 |
| NC_000002.11:g.208632628A>C , CM000664.1:g.208632628A>C | GRCh37 |
| NC_000002.10:g.208340873A>C | NCBI36 |
| NG_050642.1:g.6516T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295417.4:c.836T>G MANE Select | ENSP00000354607.3:p.Leu279Arg | |
| ENST00000295417.3:c.836T>G | ENSP00000354607.3:p.Leu279Arg | |
| NM_003468.3:c.836T>G | NP_003459.2:p.Leu279Arg | |
| XM_024453130.1:c.836T>G | XP_024308898.1:p.Leu279Arg | |
| NM_003468.4:c.836T>G MANE Select | NP_003459.2:p.Leu279Arg |