HGVS | Genome Assembly |
---|---|
NC_000010.11:g.100045685C>G , CM000672.2:g.100045685C>G | GRCh38 |
NC_000010.10:g.101805442C>G , CM000672.1:g.101805442C>G | GRCh37 |
NC_000010.9:g.101795432C>G | NCBI36 |
NG_012060.1:g.41201G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370418.8:c.1230+3073G>C MANE Select | ENSP00000359446.3:n.1230+3073G>C | |
ENST00000370418.7:c.1230+3073G>C | ENSP00000359446.3:n.1230+3073G>C | |
NM_001308.2:c.1230+3073G>C | NP_001299.1:n.1230+3073G>C | |
XM_011539299.1:c.1272+3073G>C | XP_011537601.1:n.1272+3073G>C | |
NM_001308.3:c.1230+3073G>C MANE Select | NP_001299.1:n.1230+3073G>C |