HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716965G>A , CM000667.2:g.14716965G>A | GRCh38 |
NC_000005.9:g.14717074G>A , CM000667.1:g.14717074G>A | GRCh37 |
NC_000005.8:g.14770074G>A | NCBI36 |
NG_008273.1:g.159814C>T | |
NG_008273.2:g.159821C>T | |
NG_051625.1:g.61172G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1012-130C>T MANE Select | ENSP00000284268.6:n.1012-130C>T | |
ENST00000284268.6:c.1012-130C>T | ENSP00000284268.6:n.1012-130C>T | |
ENST00000502585.1:n.124C>T | ||
NM_054027.4:c.1012-130C>T | NP_473368.1:n.1012-130C>T | |
NM_054027.5:c.1012-130C>T | NP_473368.1:n.1012-130C>T | |
XM_017009644.2:c.928-130C>T | XP_016865133.1:n.928-130C>T | |
NM_054027.6:c.1012-130C>T MANE Select | NP_473368.1:n.1012-130C>T |