HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29328399A>G , CM000664.2:g.29328399A>G | GRCh38 |
NC_000002.11:g.29551265A>G , CM000664.1:g.29551265A>G | GRCh37 |
NC_000002.10:g.29404769A>G | NCBI36 |
NG_009445.1:g.598168T>C , LRG_488:g.598168T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000389048.8:c.1365T>C MANE Select | ENSP00000373700.3:p.Cys455= | |
ENST00000389048.7:c.1365T>C | ENSP00000373700.3:p.Cys455= | |
ENST00000618119.4:c.234T>C | ENSP00000482733.1:p.Cys78= | |
NM_004304.4:c.1365T>C | NP_004295.2:p.Cys455= | |
XR_939920.1:n.707A>G | ||
XR_939921.1:n.680+5871A>G | ||
XR_001738688.2:n.2295T>C | ||
XR_939920.2:n.597A>G | ||
XR_939921.2:n.576+5871A>G | ||
NM_004304.5:c.1365T>C MANE Select | NP_004295.2:p.Cys455= |