Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225645T>G , CM000673.2:g.5225645T>G | GRCh38 |
| NC_000011.9:g.5246875T>G , CM000673.1:g.5246875T>G | GRCh37 |
| NC_000011.8:g.5203451T>G | NCBI36 |
| NG_000007.3:g.71971A>C | |
| NG_059281.1:g.6427A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.397A>C MANE Select | NP_000509.1:p.Lys133Gln |
| ENST00000335295.4:c.397A>C MANE Select | ENSP00000333994.3:p.Lys133Gln |
| NM_000518.4:c.397A>C | NP_000509.1:p.Lys133Gln |
| ENST00000633227.1:c.*213A>C | ENSP00000488004.1:n.*213A>C |
| ENST00000647020.1:c.397A>C | ENSP00000494175.1:p.Lys133Gln |