Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713492T>G , CM000681.2:g.6713492T>G | GRCh38 |
| NC_000019.9:g.6713503T>G , CM000681.1:g.6713503T>G | GRCh37 |
| NC_000019.8:g.6664503T>G | NCBI36 |
| NG_009557.1:g.12160A>C , LRG_27:g.12160A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.668A>C | ENSP00000512083.1:p.Lys223Thr | |
| ENST00000695692.1:n.115A>C | ||
| ENST00000245907.11:c.791A>C MANE Select | ENSP00000245907.4:p.Lys264Thr | |
| ENST00000245907.10:c.791A>C | ENSP00000245907.4:p.Lys264Thr | |
| ENST00000595577.1:n.295A>C | ||
| ENST00000597442.5:n.41A>C | ||
| NM_000064.3:c.791A>C | NP_000055.2:p.Lys264Thr | |
| NM_000064.4:c.791A>C MANE Select | NP_000055.2:p.Lys264Thr |