HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124872570T>C , CM000673.2:g.124872570T>C | GRCh38 |
NC_000011.9:g.124742466T>C , CM000673.1:g.124742466T>C | GRCh37 |
NC_000011.8:g.124247676T>C | NCBI36 |
NG_016214.1:g.12162T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397801.6:c.1330+18T>C MANE Select | ENSP00000380903.1:n.1330+18T>C | |
ENST00000397801.5:c.1330+18T>C | ENSP00000380903.1:n.1330+18T>C | |
ENST00000538940.5:c.1264+18T>C | ENSP00000441797.1:n.1264+18T>C | |
NM_022370.3:c.1330+18T>C | NP_071765.2:n.1330+18T>C | |
XM_011542953.1:c.2302+18T>C | XP_011541255.1:n.2302+18T>C | |
XM_017018122.1:c.1264+18T>C | XP_016873611.1:n.1264+18T>C | |
NM_022370.4:c.1330+18T>C MANE Select | NP_071765.2:n.1330+18T>C |