Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.121048434T>G , CM000685.2:g.121048434T>G | GRCh38 |
| NC_000023.10:g.120182288T>G , CM000685.1:g.120182288T>G | GRCh37 |
| NC_000023.9:g.120009969T>G | NCBI36 |
| NG_016456.1:g.5827T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328078.3:c.750T>G MANE Select | ENSP00000327589.1:p.Asn250Lys | |
| ENST00000328078.2:c.750T>G | ENSP00000327589.1:p.Asn250Lys | |
| NM_012084.3:c.750T>G | NP_036216.2:p.Asn250Lys | |
| NM_012084.4:c.750T>G MANE Select | NP_036216.2:p.Asn250Lys |