HGVS | Genome Assembly |
---|---|
NC_000010.11:g.102686003T>C , CM000672.2:g.102686003T>C | GRCh38 |
NC_000010.10:g.104445760T>C , CM000672.1:g.104445760T>C | GRCh37 |
NC_000010.9:g.104435750T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260746.6:c.316-2A>G MANE Select | ENSP00000260746.4:n.316-2A>G | |
ENST00000260746.5:c.316-2A>G | ENSP00000260746.4:n.316-2A>G | |
NM_004311.3:c.316-2A>G | NP_004302.1:n.316-2A>G | |
XM_017016260.1:c.316-2A>G | XP_016871749.1:n.316-2A>G | |
NM_004311.4:c.316-2A>G MANE Select | NP_004302.1:n.316-2A>G |