Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37710547C>A , CM000684.2:g.37710547C>A | GRCh38 |
| NC_000022.10:g.38106554C>A , CM000684.1:g.38106554C>A | GRCh37 |
| NC_000022.9:g.36436500C>A | NCBI36 |
| NG_012857.1:g.18560C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.235C>A MANE Select | ENSP00000496394.1:p.Leu79Ile | |
| ENST00000344404.10:c.235C>A | ENSP00000340312.6:p.Leu79Ile | |
| ENST00000406386.7:c.235C>A | ENSP00000384312.3:p.Leu79Ile | |
| ENST00000455236.4:c.1192C>A | ENSP00000477208.1:n.1192C>A | |
| ENST00000492485.5:n.371C>A | ||
| NM_001039141.2:c.235C>A | NP_001034230.1:p.Leu79Ile | |
| NM_001039141.3:c.235C>A MANE Select | NP_001034230.1:p.Leu79Ile |