HGVS | Genome Assembly |
---|---|
NC_000013.11:g.33024488G>A , CM000675.2:g.33024488G>A | GRCh38 |
NC_000013.10:g.33598626G>A , CM000675.1:g.33598626G>A | GRCh37 |
NC_000013.9:g.32496626G>A | NCBI36 |
NG_011485.1:g.13056G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380099.4:c.819+7229G>A MANE Select | ENSP00000369442.3:n.819+7229G>A | |
ENST00000380099.3:c.819+7229G>A | ENSP00000369442.3:n.819+7229G>A | |
ENST00000487852.1:n.827+7229G>A | ||
NM_004795.3:c.819+7229G>A | NP_004786.2:n.819+7229G>A | |
XM_006719895.1:c.-103+8175G>A | XP_006719958.1:n.-103+8175G>A | |
XM_006719895.2:c.-103+8175G>A | XP_006719958.1:n.-103+8175G>A | |
NM_004795.4:c.819+7229G>A MANE Select | NP_004786.2:n.819+7229G>A |