HGVS | Genome Assembly |
---|---|
NC_000006.12:g.42763339G>A , CM000668.2:g.42763339G>A | GRCh38 |
NC_000006.11:g.42731077G>A , CM000668.1:g.42731077G>A | GRCh37 |
NC_000006.10:g.42839055G>A | NCBI36 |
NG_054763.1:g.21382G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614467.4:c.-261+16316G>A | ENSP00000482211.1:n.-261+16316G>A | |
XR_926809.1:n.919+3405G>A | ||
XR_926810.1:n.904+3405G>A | ||
XR_926811.1:n.1175+3405G>A | ||
NM_001318819.1:c.-365+16316G>A | NP_001305748.1:n.-365+16316G>A | |
NM_001318819.2:c.-365+16316G>A | NP_001305748.1:n.-365+16316G>A |