HGVS | Genome Assembly |
---|---|
NC_000005.10:g.96429409C>T , CM000667.2:g.96429409C>T | GRCh38 |
NC_000005.9:g.95765113C>T , CM000667.1:g.95765113C>T | GRCh37 |
NC_000005.8:g.95790869C>T | NCBI36 |
NG_021161.1:g.8873G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311106.8:c.181-92G>A MANE Select | ENSP00000308024.2:n.181-92G>A | |
ENST00000311106.7:c.181-92G>A | ENSP00000308024.2:n.181-92G>A | |
ENST00000508626.5:c.40-92G>A | ENSP00000421600.1:n.40-92G>A | |
ENST00000509190.1:c.181-92G>A | ENSP00000427294.1:n.181-92G>A | |
NM_000439.4:c.181-92G>A | NP_000430.3:n.181-92G>A | |
NM_001177875.1:c.40-92G>A | NP_001171346.1:n.40-92G>A | |
NR_130776.1:n.354+49757C>T | ||
NM_000439.5:c.181-92G>A MANE Select | NP_000430.3:n.181-92G>A | |
NM_001177875.2:c.40-92G>A | NP_001171346.1:n.40-92G>A |