HGVS | Genome Assembly |
---|---|
NC_000012.12:g.10449091C>T , CM000674.2:g.10449091C>T | GRCh38 |
NC_000012.11:g.10601690C>T , CM000674.1:g.10601690C>T | GRCh37 |
NC_000012.10:g.10492957C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359151.8:c.489+146G>A MANE Select | ENSP00000352064.3:n.489+146G>A | |
ENST00000347831.9:c.435+146G>A | ENSP00000256965.7:n.435+146G>A | |
ENST00000359151.7:c.489+146G>A | ENSP00000352064.3:n.489+146G>A | |
ENST00000408006.7:c.435+146G>A | ENSP00000385304.3:n.435+146G>A | |
ENST00000536188.5:c.489+146G>A | ENSP00000441432.1:n.489+146G>A | |
ENST00000543893.1:c.128+146G>A | ||
ENST00000544822.2:c.489+146G>A | ENSP00000438038.1:n.489+146G>A | |
NM_001304448.1:c.489+146G>A | NP_001291377.1:n.489+146G>A | |
NM_002259.4:c.489+146G>A | NP_002250.1:n.489+146G>A | |
NM_007328.3:c.435+146G>A | NP_015567.1:n.435+146G>A | |
NM_213657.2:c.435+146G>A | NP_998822.1:n.435+146G>A | |
NM_213658.2:c.489+146G>A | NP_998823.1:n.489+146G>A | |
XM_024448973.1:c.489+146G>A | XP_024304741.1:n.489+146G>A | |
NM_002259.5:c.489+146G>A MANE Select | NP_002250.2:n.489+146G>A | |
NM_007328.4:c.435+146G>A | NP_015567.2:n.435+146G>A | |
NM_213657.3:c.435+146G>A | NP_998822.2:n.435+146G>A | |
NM_213658.3:c.489+146G>A | NP_998823.2:n.489+146G>A |