Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226646G>T , CM000673.2:g.5226646G>T | GRCh38 |
| NC_000011.9:g.5247876G>T , CM000673.1:g.5247876G>T | GRCh37 |
| NC_000011.8:g.5204452G>T | NCBI36 |
| NG_000007.3:g.70970C>A | |
| NG_059281.1:g.5426C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.246C>A MANE Select | NP_000509.1:p.Leu82= |
| ENST00000335295.4:c.246C>A MANE Select | ENSP00000333994.3:p.Leu82= |
| NM_000518.4:c.246C>A | NP_000509.1:p.Leu82= |
| ENST00000380315.2:c.246C>A | ENSP00000369671.2:p.Leu82= |
| ENST00000475226.1:n.178C>A | |
| ENST00000485743.1:n.297C>A | |
| ENST00000633227.1:c.*62C>A | ENSP00000488004.1:n.*62C>A |
| ENST00000647020.1:c.246C>A | ENSP00000494175.1:p.Leu82= |