Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658571A>C , CM000682.2:g.10658571A>C | GRCh38 |
| NC_000020.10:g.10639219A>C , CM000682.1:g.10639219A>C | GRCh37 |
| NC_000020.9:g.10587219A>C | NCBI36 |
| NG_007496.1:g.20476T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.591T>G MANE Select | ENSP00000254958.4:p.Asn197Lys | |
| ENST00000254958.9:c.591T>G | ENSP00000254958.4:p.Asn197Lys | |
| ENST00000423891.6:n.457T>G | ||
| NM_000214.2:c.591T>G | NP_000205.1:p.Asn197Lys | |
| NM_000214.3:c.591T>G MANE Select | NP_000205.1:p.Asn197Lys |