HGVS | Genome Assembly |
---|---|
NC_000013.11:g.40644461C>T , CM000675.2:g.40644461C>T | GRCh38 |
NC_000013.10:g.41218598C>T , CM000675.1:g.41218598C>T | GRCh37 |
NC_000013.9:g.40116598C>T | NCBI36 |
NG_023244.1:g.27137G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379561.6:c.630+21122G>A MANE Select | ENSP00000368880.4:n.630+21122G>A | |
ENST00000655267.1:n.333+21122G>A | ||
ENST00000660760.1:n.296-11213G>A | ||
ENST00000379561.5:c.630+21122G>A | ENSP00000368880.4:n.630+21122G>A | |
NM_002015.3:c.630+21122G>A | NP_002006.2:n.630+21122G>A | |
XR_941536.1:n.1226+878G>A | ||
NM_002015.4:c.630+21122G>A MANE Select | NP_002006.2:n.630+21122G>A |