HGVS | Genome Assembly |
---|---|
NC_000002.12:g.19960553C>T , CM000664.2:g.19960553C>T | GRCh38 |
NC_000002.11:g.20160314C>T , CM000664.1:g.20160314C>T | GRCh37 |
NC_000002.10:g.20023795C>T | NCBI36 |
NG_021212.1:g.34571G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281405.9:c.1255+1G>A MANE Select | ENSP00000281405.5:n.1255+1G>A | |
ENST00000345530.8:c.1288+1G>A MANE Plus Clinical | ENSP00000314444.5:n.1288+1G>A | |
ENST00000281405.8:c.1255+1G>A | ENSP00000281405.4:n.1255+1G>A | |
ENST00000345530.7:c.1288+1G>A | ENSP00000314444.5:n.1288+1G>A | |
ENST00000414212.5:c.1288+1G>A | ENSP00000390802.1:n.1288+1G>A | |
ENST00000445063.5:c.731+6171G>A | ||
NM_001006657.1:c.1288+1G>A | NP_001006658.1:n.1288+1G>A | |
NM_020779.3:c.1255+1G>A | NP_065830.2:n.1255+1G>A | |
XM_011533007.1:c.-18+6171G>A | XP_011531309.1:n.-18+6171G>A | |
XR_426989.2:n.1288+1G>A | ||
XR_939699.1:n.1288+1G>A | ||
XM_011533007.2:c.-18+6171G>A | XP_011531309.1:n.-18+6171G>A | |
XR_001738862.1:n.1288+1G>A | ||
XR_426989.3:n.1288+1G>A | ||
XR_939699.3:n.1288+1G>A | ||
NM_001006657.2:c.1288+1G>A MANE Plus Clinical | NP_001006658.1:n.1288+1G>A | |
NM_020779.4:c.1255+1G>A MANE Select | NP_065830.2:n.1255+1G>A |