HGVS | Genome Assembly |
---|---|
NC_000013.11:g.40612267C>T , CM000675.2:g.40612267C>T | GRCh38 |
NC_000013.10:g.41186404C>T , CM000675.1:g.41186404C>T | GRCh37 |
NC_000013.9:g.40084404C>T | NCBI36 |
NG_023244.1:g.59331G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379561.6:c.631-51407G>A MANE Select | ENSP00000368880.4:n.631-51407G>A | |
ENST00000655267.1:n.334-49505G>A | ||
ENST00000660760.1:n.397+20880G>A | ||
ENST00000379561.5:c.631-51407G>A | ENSP00000368880.4:n.631-51407G>A | |
NM_002015.3:c.631-51407G>A | NP_002006.2:n.631-51407G>A | |
XM_011535008.1:c.87+1883G>A | XP_011533310.1:n.87+1883G>A | |
XR_941536.1:n.1226+33072G>A | ||
XM_011535008.2:c.87+1883G>A | XP_011533310.1:n.87+1883G>A | |
NM_002015.4:c.631-51407G>A MANE Select | NP_002006.2:n.631-51407G>A |