HGVS | Genome Assembly |
---|---|
NC_000015.10:g.42958136C>G , CM000677.2:g.42958136C>G | GRCh38 |
NC_000015.9:g.43250334C>G , CM000677.1:g.43250334C>G | GRCh37 |
NC_000015.8:g.41037626C>G | NCBI36 |
NG_012182.1:g.152953G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290650.9:c.4758-46G>C MANE Select | ENSP00000290650.4:n.4758-46G>C | |
ENST00000290650.8:c.4758-46G>C | ENSP00000290650.4:n.4758-46G>C | |
NM_174916.2:c.4758-46G>C | NP_777576.1:n.4758-46G>C | |
NM_174916.3:c.4758-46G>C MANE Select | NP_777576.1:n.4758-46G>C |