HGVS | Genome Assembly |
---|---|
NC_000020.11:g.61718507G>A , CM000682.2:g.61718507G>A | GRCh38 |
NC_000020.10:g.60293563G>A , CM000682.1:g.60293563G>A | GRCh37 |
NC_000020.9:g.59726958G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614565.5:c.170-25056G>A MANE Select | ENSP00000484928.1:n.170-25056G>A | |
ENST00000543233.2:c.-53-25056G>A | ENSP00000443301.1:n.-53-25056G>A | |
ENST00000611855.4:c.50-25056G>A | ENSP00000480844.1:n.50-25056G>A | |
ENST00000614565.4:c.170-25056G>A | ENSP00000484928.1:n.170-25056G>A | |
NM_001252338.2:c.59-25056G>A | NP_001239267.1:n.59-25056G>A | |
NM_001252339.2:c.-53-25056G>A | NP_001239268.1:n.-53-25056G>A | |
NM_001794.4:c.170-25056G>A | NP_001785.2:n.170-25056G>A | |
NR_147702.1:n.999C>T | ||
NM_001794.5:c.170-25056G>A MANE Select | NP_001785.2:n.170-25056G>A | |
NM_001252339.3:c.-53-25056G>A | NP_001239268.1:n.-53-25056G>A |