HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29328829T>G , CM000664.2:g.29328829T>G | GRCh38 |
NC_000002.11:g.29551695T>G , CM000664.1:g.29551695T>G | GRCh37 |
NC_000002.10:g.29405199T>G | NCBI36 |
NG_009445.1:g.597738A>C , LRG_488:g.597738A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389048.8:c.1283-348A>C MANE Select | ENSP00000373700.3:n.1283-348A>C | |
ENST00000389048.7:c.1283-348A>C | ENSP00000373700.3:n.1283-348A>C | |
ENST00000618119.4:c.152-348A>C | ENSP00000482733.1:n.152-348A>C | |
NM_004304.4:c.1283-348A>C | NP_004295.2:n.1283-348A>C | |
XR_939920.1:n.818-96T>G | ||
XR_939921.1:n.680+6301T>G | ||
XR_001738688.2:n.2213-348A>C | ||
XR_939920.2:n.708-96T>G | ||
XR_939921.2:n.576+6301T>G | ||
NM_004304.5:c.1283-348A>C MANE Select | NP_004295.2:n.1283-348A>C |