HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716966C>G , CM000667.2:g.14716966C>G | GRCh38 |
NC_000005.9:g.14717075C>G , CM000667.1:g.14717075C>G | GRCh37 |
NC_000005.8:g.14770075C>G | NCBI36 |
NG_008273.1:g.159813G>C | |
NG_008273.2:g.159820G>C | |
NG_051625.1:g.61173C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1012-131G>C MANE Select | ENSP00000284268.6:n.1012-131G>C | |
ENST00000284268.6:c.1012-131G>C | ENSP00000284268.6:n.1012-131G>C | |
ENST00000502585.1:n.123G>C | ||
NM_054027.4:c.1012-131G>C | NP_473368.1:n.1012-131G>C | |
NM_054027.5:c.1012-131G>C | NP_473368.1:n.1012-131G>C | |
XM_017009644.2:c.928-131G>C | XP_016865133.1:n.928-131G>C | |
NM_054027.6:c.1012-131G>C MANE Select | NP_473368.1:n.1012-131G>C |