Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731876A>C , CM000685.2:g.8731876A>C | GRCh38 |
| NC_000023.10:g.8699917A>C , CM000685.1:g.8699917A>C | GRCh37 |
| NC_000023.9:g.8659917A>C | NCBI36 |
| NG_007088.1:g.5311T>G | |
| NG_007088.2:g.5311T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.161T>G MANE Select | ENSP00000262648.3:p.Leu54Arg | |
| ENST00000262648.7:c.161T>G | ENSP00000262648.3:p.Leu54Arg | |
| ENST00000619786.1:c.158T>G | ENSP00000478734.1:p.Leu53Arg | |
| NM_000216.2:c.161T>G | NP_000207.2:p.Leu54Arg | |
| XM_005274501.3:c.161T>G | XP_005274558.1:p.Leu54Arg | |
| NM_000216.3:c.161T>G | NP_000207.2:p.Leu54Arg | |
| XM_005274501.4:c.161T>G | XP_005274558.1:p.Leu54Arg | |
| NM_000216.4:c.161T>G MANE Select | NP_000207.2:p.Leu54Arg |