HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7933934G>T , CM000681.2:g.7933934G>T | GRCh38 |
NC_000019.9:g.7998819G>T , CM000681.1:g.7998819G>T | GRCh37 |
NC_000019.8:g.7904819G>T | NCBI36 |
NG_051180.1:g.14890C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270538.8:c.613C>A MANE Select | ENSP00000270538.2:p.Gln205Lys | |
ENST00000270538.7:c.613C>A | ENSP00000270538.2:p.Gln205Lys | |
ENST00000595831.5:c.600C>A | ||
ENST00000595876.5:c.*301C>A | ENSP00000471596.1:n.*301C>A | |
ENST00000597926.1:c.517C>A | ENSP00000469389.1:p.Gln173Lys | |
ENST00000598675.1:n.19C>A | ||
ENST00000600748.5:n.598C>A | ||
NM_006351.3:c.613C>A | NP_006342.2:p.Gln205Lys | |
NM_006351.4:c.613C>A MANE Select | NP_006342.2:p.Gln205Lys |