HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52516444C>G , CM000674.2:g.52516444C>G | GRCh38 |
NC_000012.11:g.52910228C>G , CM000674.1:g.52910228C>G | GRCh37 |
NC_000012.10:g.51196495C>G | NCBI36 |
NG_008297.1:g.9016G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.1439+193G>C MANE Select | ENSP00000252242.4:n.1439+193G>C | |
ENST00000252242.8:c.1439+193G>C | ENSP00000252242.4:n.1439+193G>C | |
ENST00000548409.5:c.561+193G>C | ||
ENST00000549511.5:n.646+193G>C | ||
ENST00000552629.5:n.1730G>C | ||
NM_000424.3:c.1439+193G>C | NP_000415.2:n.1439+193G>C | |
NM_000424.4:c.1439+193G>C MANE Select | NP_000415.2:n.1439+193G>C |