Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119321009A>C , CM000666.2:g.119321009A>C | GRCh38 |
| NC_000004.11:g.120242164A>C , CM000666.1:g.120242164A>C | GRCh37 |
| NC_000004.10:g.120461612A>C | NCBI36 |
| NG_011444.1:g.6153T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000134.4:c.68-167T>G MANE Select | NP_000125.2:n.68-167T>G |
| ENST00000274024.4:c.68-167T>G MANE Select | ENSP00000274024.3:n.68-167T>G |
| NM_000134.3:c.68-167T>G | NP_000125.2:n.68-167T>G |
| ENST00000274024.3:c.68-167T>G | ENSP00000274024.3:n.68-167T>G |