HGVS | Genome Assembly |
---|---|
NC_000005.10:g.172333467T>G , CM000667.2:g.172333467T>G | GRCh38 |
NC_000005.9:g.171760471T>G , CM000667.1:g.171760471T>G | GRCh37 |
NC_000005.8:g.171693076T>G | NCBI36 |
NG_027746.1:g.126057A>C | |
NG_027746.2:g.126057A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000636523.1:c.1229-8087A>C | ||
ENST00000519643.5:c.1189-8087A>C | ENSP00000430890.1:n.1189-8087A>C | |
NM_001308175.1:c.1189-8087A>C | NP_001295104.1:n.1189-8087A>C | |
NM_001308175.2:c.1189-8087A>C | NP_001295104.1:n.1189-8087A>C |