Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868566C>A , CM000673.2:g.65868566C>A | GRCh38 |
| NC_000011.9:g.65636037C>A , CM000673.1:g.65636037C>A | GRCh37 |
| NC_000011.8:g.65392613C>A | NCBI36 |
| NG_012304.2:g.9369G>T | |
| NG_053116.1:g.13505C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.791G>T MANE Select | ENSP00000309953.6:p.Arg264Leu | |
| ENST00000307998.10:c.791G>T | ENSP00000309953.6:p.Arg264Leu | |
| ENST00000526628.5:n.1357G>T | ||
| ENST00000527969.1:n.1476G>T | ||
| ENST00000528176.5:c.791G>T | ENSP00000434151.1:p.Arg264Leu | |
| ENST00000531005.5:n.1785G>T | ||
| ENST00000531972.5:c.791G>T | ENSP00000435295.1:p.Arg264Leu | |
| ENST00000532084.5:n.217G>T | ||
| NM_016938.4:c.791G>T | NP_058634.4:p.Arg264Leu | |
| NR_037718.1:n.1050G>T | ||
| NM_016938.5:c.791G>T MANE Select | NP_058634.4:p.Arg264Leu | |
| NR_037718.2:n.916G>T |