HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94536434C>T , CM000663.2:g.94536434C>T | GRCh38 |
NC_000001.10:g.95001990C>T , CM000663.1:g.95001990C>T | GRCh37 |
NC_000001.9:g.94774578C>T | NCBI36 |
NG_029366.1:g.10424G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000334047.12:c.213-270G>A MANE Select | ENSP00000334145.7:n.213-270G>A | |
ENST00000334047.11:c.213-270G>A | ENSP00000334145.7:n.213-270G>A | |
ENST00000370207.4:c.213-270G>A | ENSP00000359226.4:n.213-270G>A | |
ENST00000480356.1:n.831-270G>A | ||
NM_001178096.1:c.213-270G>A | NP_001171567.1:n.213-270G>A | |
NM_001993.4:c.213-270G>A | NP_001984.1:n.213-270G>A | |
NM_001993.5:c.213-270G>A MANE Select | NP_001984.1:n.213-270G>A | |
NM_001178096.2:c.213-270G>A | NP_001171567.1:n.213-270G>A |