HGVS | Genome Assembly |
---|---|
NC_000001.11:g.100249816G>A , CM000663.2:g.100249816G>A | GRCh38 |
NC_000001.10:g.100715372G>A , CM000663.1:g.100715372G>A | GRCh37 |
NC_000001.9:g.100487960G>A | NCBI36 |
NG_011852.2:g.5038C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000681617.1:c.5C>T | ENSP00000505544.1:p.Ala2Val | |
ENST00000681780.1:c.-726C>T | ENSP00000505780.1:n.-726C>T | |
ENST00000370131.3:c.5C>T | ENSP00000359150.3:p.Ala2Val | |
ENST00000370132.8:c.5C>T MANE Select | ENSP00000359151.3:p.Ala2Val | |
NM_001918.3:c.5C>T | NP_001909.3:p.Ala2Val | |
XM_005270545.2:c.-726C>T | XP_005270602.1:n.-726C>T | |
XR_946560.1:n.25C>T | ||
XM_005270545.4:c.-726C>T | XP_005270602.1:n.-726C>T | |
XM_017000468.2:c.-786C>T | XP_016855957.1:n.-786C>T | |
XR_946560.3:n.22C>T | ||
NM_001918.4:c.5C>T | NP_001909.3:p.Ala2Val | |
NM_001918.5:c.5C>T MANE Select | NP_001909.4:p.Ala2Val | |
NM_001399969.1:c.-726C>T | NP_001386898.1:n.-726C>T | |
NM_001399972.1:c.-599C>T | NP_001386901.1:n.-599C>T | |
NR_174363.1:n.19C>T | ||
NR_174364.1:n.19C>T | ||
NR_174365.1:n.19C>T | ||
NR_174366.1:n.19C>T |