HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29328858A>G , CM000664.2:g.29328858A>G | GRCh38 |
NC_000002.11:g.29551724A>G , CM000664.1:g.29551724A>G | GRCh37 |
NC_000002.10:g.29405228A>G | NCBI36 |
NG_009445.1:g.597709T>C , LRG_488:g.597709T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389048.8:c.1283-377T>C MANE Select | ENSP00000373700.3:n.1283-377T>C | |
ENST00000389048.7:c.1283-377T>C | ENSP00000373700.3:n.1283-377T>C | |
ENST00000618119.4:c.152-377T>C | ENSP00000482733.1:n.152-377T>C | |
NM_004304.4:c.1283-377T>C | NP_004295.2:n.1283-377T>C | |
XR_939920.1:n.818-67A>G | ||
XR_939921.1:n.680+6330A>G | ||
XR_001738688.2:n.2213-377T>C | ||
XR_939920.2:n.708-67A>G | ||
XR_939921.2:n.576+6330A>G | ||
NM_004304.5:c.1283-377T>C MANE Select | NP_004295.2:n.1283-377T>C |