Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23682756C>A , CM000670.2:g.23682756C>A | GRCh38 |
| NC_000008.10:g.23540269C>A , CM000670.1:g.23540269C>A | GRCh37 |
| NC_000008.9:g.23596214C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380871.5:c.134G>T MANE Select | ENSP00000370253.4:p.Arg45Leu | |
| ENST00000380871.4:c.134G>T | ENSP00000370253.4:p.Arg45Leu | |
| ENST00000523261.1:c.33+101G>T | ENSP00000429729.1:n.33+101G>T | |
| NM_001256339.1:c.33+101G>T | NP_001243268.1:n.33+101G>T | |
| NM_006167.3:c.134G>T | NP_006158.2:p.Arg45Leu | |
| NR_046072.1:n.18+148G>T | ||
| XR_001745842.1:n.1312+14006C>A | ||
| NM_006167.4:c.134G>T MANE Select | NP_006158.2:p.Arg45Leu | |
| NR_046072.2:n.35+148G>T |