HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7933938C>A , CM000681.2:g.7933938C>A | GRCh38 |
NC_000019.9:g.7998823C>A , CM000681.1:g.7998823C>A | GRCh37 |
NC_000019.8:g.7904823C>A | NCBI36 |
NG_051180.1:g.14886G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270538.8:c.609G>T MANE Select | ENSP00000270538.2:p.Arg203Ser | |
ENST00000270538.7:c.609G>T | ENSP00000270538.2:p.Arg203Ser | |
ENST00000595831.5:c.596G>T | ||
ENST00000595876.5:c.*297G>T | ENSP00000471596.1:n.*297G>T | |
ENST00000597926.1:c.513G>T | ENSP00000469389.1:p.Arg171Ser | |
ENST00000598675.1:n.15G>T | ||
ENST00000600748.5:n.594G>T | ||
NM_006351.3:c.609G>T | NP_006342.2:p.Arg203Ser | |
NM_006351.4:c.609G>T MANE Select | NP_006342.2:p.Arg203Ser |