HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454192G>C , CM000679.2:g.7454192G>C | GRCh38 |
NC_000017.10:g.7357511G>C , CM000679.1:g.7357511G>C | GRCh37 |
NC_000017.9:g.7298235G>C | NCBI36 |
NG_008026.1:g.14106G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.821-105G>C MANE Select | ENSP00000304290.2:n.821-105G>C | |
ENST00000306071.6:c.821-105G>C | ENSP00000304290.2:n.821-105G>C | |
ENST00000536404.6:c.605-105G>C | ENSP00000439209.2:n.605-105G>C | |
ENST00000570557.5:c.484-105G>C | ||
ENST00000573209.1:n.1765-105G>C | ||
ENST00000576360.1:c.605-252G>C | ENSP00000459092.1:n.605-252G>C | |
NM_000747.2:c.821-105G>C | NP_000738.2:n.821-105G>C | |
NM_000747.3:c.821-105G>C MANE Select | NP_000738.2:n.821-105G>C |