HGVS | Genome Assembly |
---|---|
NC_000022.11:g.42130773C>T , CM000684.2:g.42130773C>T | GRCh38 |
NC_000022.10:g.42526775C>T , CM000684.1:g.42526775C>T | GRCh37 |
NC_000022.9:g.40856719C>T | NCBI36 |
NG_008376.3:g.4219G>A | |
NG_008376.4:g.5038G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360124.10:c.19G>A | ENSP00000353241.6:p.Val7Met | |
ENST00000645361.2:c.19G>A MANE Select | ENSP00000496150.1:p.Val7Met | |
ENST00000359033.4:c.19G>A | ENSP00000351927.4:p.Val7Met | |
ENST00000360608.9:c.19G>A | ENSP00000353820.5:p.Val7Met | |
ENST00000389970.7:c.-48G>A | ENSP00000374620.4:n.-48G>A | |
ENST00000488442.1:n.41G>A | ||
NM_000106.5:c.19G>A | NP_000097.3:p.Val7Met | |
NM_001025161.2:c.19G>A | NP_001020332.2:p.Val7Met | |
XM_011529966.1:c.19G>A | XP_011528268.1:p.Val7Met | |
XM_011529967.1:c.19G>A | XP_011528269.1:p.Val7Met | |
XM_011529968.1:c.19G>A | XP_011528270.1:p.Val7Met | |
XM_011529969.1:c.37+524G>A | XP_011528271.1:n.37+524G>A | |
XM_011529970.1:c.19G>A | XP_011528272.1:p.Val7Met | |
XM_011529971.1:c.37+524G>A | XP_011528273.1:n.37+524G>A | |
XM_011529972.1:c.19G>A | XP_011528274.1:p.Val7Met | |
XR_430455.2:n.328+85C>T | ||
NM_000106.6:c.19G>A MANE Select | NP_000097.3:p.Val7Met | |
XR_002958749.1:n.275+85C>T | ||
NM_001025161.3:c.19G>A | NP_001020332.2:p.Val7Met |