Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225643T>C , CM000673.2:g.5225643T>C | GRCh38 |
| NC_000011.9:g.5246873T>C , CM000673.1:g.5246873T>C | GRCh37 |
| NC_000011.8:g.5203449T>C | NCBI36 |
| NG_000007.3:g.71973A>G | |
| NG_059281.1:g.6429A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.399A>G | ENSP00000494175.1:p.Lys133= | |
| ENST00000335295.4:c.399A>G MANE Select | ENSP00000333994.3:p.Lys133= | |
| ENST00000633227.1:c.*215A>G | ENSP00000488004.1:n.*215A>G | |
| NM_000518.4:c.399A>G | NP_000509.1:p.Lys133= | |
| NM_000518.5:c.399A>G MANE Select | NP_000509.1:p.Lys133= |