HGVS | Genome Assembly |
---|---|
NC_000012.12:g.9757549A>C , CM000674.2:g.9757549A>C | GRCh38 |
NC_000012.11:g.9910145A>C , CM000674.1:g.9910145A>C | GRCh37 |
NC_000012.10:g.9801412A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000228434.7:c.65-1130T>G MANE Select | ENSP00000228434.3:n.65-1130T>G | |
ENST00000416624.6:n.146-1130T>G | ||
ENST00000536709.1:c.65-1130T>G | ENSP00000442597.1:n.65-1130T>G | |
ENST00000543147.1:n.146-1130T>G | ||
NM_001781.2:c.65-1130T>G MANE Select | NP_001772.1:n.65-1130T>G |