HGVS | Genome Assembly |
---|---|
NC_000002.12:g.113117844A>C , CM000664.2:g.113117844A>C | GRCh38 |
NC_000002.11:g.113875421A>C , CM000664.1:g.113875421A>C | GRCh37 |
NC_000002.10:g.113591892A>C | NCBI36 |
NG_021240.1:g.4952A>C , LRG_188:g.4952A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409052.6:c.-272-2222A>C | ENSP00000387210.1:n.-272-2222A>C | |
ENST00000465812.6:n.775+179A>C | ||
ENST00000409052.5:c.-272-2222A>C | ENSP00000387210.1:n.-272-2222A>C | |
XM_011511121.1:c.-272-2222A>C | XP_011509423.1:n.-272-2222A>C |