HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716973C>A , CM000667.2:g.14716973C>A | GRCh38 |
NC_000005.9:g.14717082C>A , CM000667.1:g.14717082C>A | GRCh37 |
NC_000005.8:g.14770082C>A | NCBI36 |
NG_008273.1:g.159806G>T | |
NG_008273.2:g.159813G>T | |
NG_051625.1:g.61180C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1012-138G>T MANE Select | ENSP00000284268.6:n.1012-138G>T | |
ENST00000284268.6:c.1012-138G>T | ENSP00000284268.6:n.1012-138G>T | |
ENST00000502585.1:n.116G>T | ||
NM_054027.4:c.1012-138G>T | NP_473368.1:n.1012-138G>T | |
NM_054027.5:c.1012-138G>T | NP_473368.1:n.1012-138G>T | |
XM_017009644.2:c.928-138G>T | XP_016865133.1:n.928-138G>T | |
NM_054027.6:c.1012-138G>T MANE Select | NP_473368.1:n.1012-138G>T |