HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7933921T>G , CM000681.2:g.7933921T>G | GRCh38 |
NC_000019.9:g.7998806T>G , CM000681.1:g.7998806T>G | GRCh37 |
NC_000019.8:g.7904806T>G | NCBI36 |
NG_051180.1:g.14903A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270538.8:c.626A>C MANE Select | ENSP00000270538.2:p.Lys209Thr | |
ENST00000270538.7:c.626A>C | ENSP00000270538.2:p.Lys209Thr | |
ENST00000595831.5:c.613A>C | ||
ENST00000595876.5:c.*314A>C | ENSP00000471596.1:n.*314A>C | |
ENST00000597926.1:c.530A>C | ENSP00000469389.1:p.Lys177Thr | |
ENST00000598675.1:n.32A>C | ||
ENST00000600748.5:n.611A>C | ||
NM_006351.3:c.626A>C | NP_006342.2:p.Lys209Thr | |
NM_006351.4:c.626A>C MANE Select | NP_006342.2:p.Lys209Thr |