HGVS | Genome Assembly |
---|---|
NC_000003.12:g.8733506G>A , CM000665.2:g.8733506G>A | GRCh38 |
NC_000003.11:g.8775192G>A , CM000665.1:g.8775192G>A | GRCh37 |
NC_000003.10:g.8750192G>A | NCBI36 |
NG_008797.2:g.4697G>A , LRG_329:g.4697G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435138.5:c.64+8953C>T | ENSP00000412333.1:n.64+8953C>T | |
ENST00000478513.1:n.335+8953C>T | ||
XR_940435.1:n.330+8953C>T | ||
XM_017006530.1:c.-283+8953C>T | XP_016862019.1:n.-283+8953C>T |