HGVS | Genome Assembly |
---|---|
NC_000007.14:g.76346269C>G , CM000669.2:g.76346269C>G | GRCh38 |
NC_000007.13:g.75975586C>G , CM000669.1:g.75975586C>G | GRCh37 |
NC_000007.12:g.75813522C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307630.5:c.87+12453G>C MANE Select | ENSP00000306330.3:n.87+12453G>C | |
ENST00000307630.4:c.87+12453G>C | ENSP00000306330.3:n.87+12453G>C | |
NM_012479.3:c.87+12453G>C | NP_036611.2:n.87+12453G>C | |
NM_012479.4:c.87+12453G>C MANE Select | NP_036611.2:n.87+12453G>C |