HGVS | Genome Assembly |
---|---|
NC_000015.10:g.42958196A>G , CM000677.2:g.42958196A>G | GRCh38 |
NC_000015.9:g.43250394A>G , CM000677.1:g.43250394A>G | GRCh37 |
NC_000015.8:g.41037686A>G | NCBI36 |
NG_012182.1:g.152893T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290650.9:c.4758-106T>C MANE Select | ENSP00000290650.4:n.4758-106T>C | |
ENST00000290650.8:c.4758-106T>C | ENSP00000290650.4:n.4758-106T>C | |
NM_174916.2:c.4758-106T>C | NP_777576.1:n.4758-106T>C | |
NM_174916.3:c.4758-106T>C MANE Select | NP_777576.1:n.4758-106T>C |