HGVS | Genome Assembly |
---|---|
NC_000005.10:g.150860744G>C , CM000667.2:g.150860744G>C | GRCh38 |
NC_000005.9:g.150240306G>C , CM000667.1:g.150240306G>C | GRCh37 |
NC_000005.8:g.150220499G>C | NCBI36 |
NG_027809.2:g.19222G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000520549.1:c.158+12090G>C | ||
XM_011537641.1:c.531+12090G>C | XP_011535943.1:n.531+12090G>C | |
NM_001346557.1:c.531+12090G>C | NP_001333486.1:n.531+12090G>C | |
NM_001346557.2:c.531+12090G>C | NP_001333486.1:n.531+12090G>C | |
NR_170598.1:n.1646+12090G>C |