HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124872482G>C , CM000673.2:g.124872482G>C | GRCh38 |
NC_000011.9:g.124742378G>C , CM000673.1:g.124742378G>C | GRCh37 |
NC_000011.8:g.124247588G>C | NCBI36 |
NG_016214.1:g.12074G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397801.6:c.1260G>C MANE Select | ENSP00000380903.1:p.Gly420= | |
ENST00000397801.5:c.1260G>C | ENSP00000380903.1:p.Gly420= | |
ENST00000538940.5:c.1194G>C | ENSP00000441797.1:p.Gly398= | |
NM_022370.3:c.1260G>C | NP_071765.2:p.Gly420= | |
XM_011542953.1:c.2232G>C | XP_011541255.1:p.Gly744= | |
XM_017018122.1:c.1194G>C | XP_016873611.1:p.Gly398= | |
NM_022370.4:c.1260G>C MANE Select | NP_071765.2:p.Gly420= |