Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225612G>C , CM000673.2:g.5225612G>C | GRCh38 |
| NC_000011.9:g.5246842G>C , CM000673.1:g.5246842G>C | GRCh37 |
| NC_000011.8:g.5203418G>C | NCBI36 |
| NG_000007.3:g.72004C>G | |
| NG_059281.1:g.6460C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.430C>G MANE Select | NP_000509.1:p.His144Asp |
| ENST00000335295.4:c.430C>G MANE Select | ENSP00000333994.3:p.His144Asp |
| NM_000518.4:c.430C>G | NP_000509.1:p.His144Asp |
| ENST00000633227.1:c.*246C>G | ENSP00000488004.1:n.*246C>G |
| ENST00000647020.1:c.430C>G | ENSP00000494175.1:p.His144Asp |