HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5968892T>C , CM000674.2:g.5968892T>C | GRCh38 |
NC_000012.11:g.6078058T>C , CM000674.1:g.6078058T>C | GRCh37 |
NC_000012.10:g.5948319T>C | NCBI36 |
NG_009072.1:g.160779A>G | |
NG_009072.2:g.160779A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261405.10:c.7729+319A>G MANE Select | ENSP00000261405.5:n.7729+319A>G | |
ENST00000261405.9:c.7729+319A>G | ENSP00000261405.5:n.7729+319A>G | |
NM_000552.3:c.7729+319A>G | NP_000543.2:n.7729+319A>G | |
NM_000552.4:c.7729+319A>G | NP_000543.2:n.7729+319A>G | |
NM_000552.5:c.7729+319A>G MANE Select | NP_000543.3:n.7729+319A>G |