Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49991834T>G , CM000679.2:g.49991834T>G | GRCh38 |
| NC_000017.10:g.48069198T>G , CM000679.1:g.48069198T>G | GRCh37 |
| NC_000017.9:g.45424197T>G | NCBI36 |
| NG_023063.1:g.8391A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.547A>C MANE Select | ENSP00000389870.2:p.Lys183Gln | |
| ENST00000512495.2:c.187A>C | ENSP00000449976.1:p.Lys63Gln | |
| NM_005220.2:c.547A>C | NP_005211.1:p.Lys183Gln | |
| XM_011524458.1:c.516+1566A>C | XP_011522760.1:n.516+1566A>C | |
| NM_005220.3:c.547A>C MANE Select | NP_005211.1:p.Lys183Gln |