HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15445698G>T , CM000663.2:g.15445698G>T | GRCh38 |
NC_000001.10:g.15772193G>T , CM000663.1:g.15772193G>T | GRCh37 |
NC_000001.9:g.15644780G>T | NCBI36 |
NG_009253.1:g.12256G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375949.5:c.741G>T MANE Select | ENSP00000365116.4:p.Lys247Asn | |
ENST00000375943.6:c.*195G>T | ENSP00000365110.2:n.*195G>T | |
ENST00000375949.4:c.741G>T | ENSP00000365116.4:p.Lys247Asn | |
ENST00000483406.1:n.505G>T | ||
NM_007272.2:c.741G>T | NP_009203.2:p.Lys247Asn | |
XM_011540550.1:c.595G>T | XP_011538852.1:p.Glu199Ter | |
NM_007272.3:c.741G>T MANE Select | NP_009203.2:p.Lys247Asn |