HGVS | Genome Assembly |
---|---|
NC_000002.12:g.113117792C>T , CM000664.2:g.113117792C>T | GRCh38 |
NC_000002.11:g.113875369C>T , CM000664.1:g.113875369C>T | GRCh37 |
NC_000002.10:g.113591840C>T | NCBI36 |
NG_021240.1:g.4900C>T , LRG_188:g.4900C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409052.6:c.-272-2274C>T | ENSP00000387210.1:n.-272-2274C>T | |
ENST00000465812.6:n.775+127C>T | ||
ENST00000409052.5:c.-272-2274C>T | ENSP00000387210.1:n.-272-2274C>T | |
XM_011511121.1:c.-272-2274C>T | XP_011509423.1:n.-272-2274C>T |