HGVS | Genome Assembly |
---|---|
NC_000002.12:g.31387810C>T , CM000664.2:g.31387810C>T | GRCh38 |
NC_000002.11:g.31610676C>T , CM000664.1:g.31610676C>T | GRCh37 |
NC_000002.10:g.31464180C>T | NCBI36 |
NG_008871.1:g.31936G>A | |
NG_008871.2:g.31936G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379416.4:c.651+1G>A MANE Select | ENSP00000368727.3:n.651+1G>A | |
ENST00000379416.3:c.651+1G>A | ENSP00000368727.3:n.651+1G>A | |
ENST00000491727.5:n.194+1G>A | ||
NM_000379.3:c.651+1G>A | NP_000370.2:n.651+1G>A | |
XM_011533095.1:c.651+1G>A | XP_011531397.1:n.651+1G>A | |
XM_011533096.1:c.651+1G>A | XP_011531398.1:n.651+1G>A | |
XM_011533095.2:c.651+1G>A | XP_011531397.1:n.651+1G>A | |
XM_011533096.2:c.651+1G>A | XP_011531398.1:n.651+1G>A | |
NM_000379.4:c.651+1G>A MANE Select | NP_000370.2:n.651+1G>A |