HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133373353C>G , CM000672.2:g.133373353C>G | GRCh38 |
NC_000010.10:g.135186857C>G , CM000672.1:g.135186857C>G | GRCh37 |
NC_000010.9:g.135036847C>G | NCBI36 |
NG_042077.1:g.5052G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368547.4:c.-20G>C MANE Select | ENSP00000357535.3:n.-20G>C | |
ENST00000368547.3:c.-20G>C | ENSP00000357535.3:n.-20G>C | |
NM_004092.3:c.-20G>C | NP_004083.3:n.-20G>C | |
XR_002956965.1:n.44G>C | ||
NM_004092.4:c.-20G>C MANE Select | NP_004083.3:n.-20G>C |