Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320772A>C , CM000666.2:g.119320772A>C | GRCh38 |
| NC_000004.11:g.120241927A>C , CM000666.1:g.120241927A>C | GRCh37 |
| NC_000004.10:g.120461375A>C | NCBI36 |
| NG_011444.1:g.6390T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.138T>G MANE Select | ENSP00000274024.3:p.Asn46Lys | |
| ENST00000274024.3:c.138T>G | ENSP00000274024.3:p.Asn46Lys | |
| NM_000134.3:c.138T>G | NP_000125.2:p.Asn46Lys | |
| NM_000134.4:c.138T>G MANE Select | NP_000125.2:p.Asn46Lys |