HGVS | Genome Assembly |
---|---|
NC_000003.12:g.8733708A>C , CM000665.2:g.8733708A>C | GRCh38 |
NC_000003.11:g.8775394A>C , CM000665.1:g.8775394A>C | GRCh37 |
NC_000003.10:g.8750394A>C | NCBI36 |
NG_008797.2:g.4899A>C , LRG_329:g.4899A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435138.5:c.64+8751T>G | ENSP00000412333.1:n.64+8751T>G | |
ENST00000478513.1:n.335+8751T>G | ||
XR_940435.1:n.330+8751T>G | ||
XM_017006530.1:c.-283+8751T>G | XP_016862019.1:n.-283+8751T>G |