Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94007638T>G , CM000663.2:g.94007638T>G | GRCh38 |
| NC_000001.10:g.94473194T>G , CM000663.1:g.94473194T>G | GRCh37 |
| NC_000001.9:g.94245782T>G | NCBI36 |
| NG_009073.1:g.118512A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6001A>C MANE Select | ENSP00000359245.3:p.Lys2001Gln | |
| ENST00000370225.3:c.6001A>C | ENSP00000359245.3:p.Lys2001Gln | |
| ENST00000465352.1:n.417A>C | ||
| ENST00000484388.1:n.115A>C | ||
| ENST00000536513.5:c.2377A>C | ENSP00000439707.2:p.Lys793Gln | |
| NM_000350.2:c.6001A>C | NP_000341.2:p.Lys2001Gln | |
| NM_000350.3:c.6001A>C MANE Select | NP_000341.2:p.Lys2001Gln |