HGVS | Genome Assembly |
---|---|
NC_000004.12:g.71784103T>G , CM000666.2:g.71784103T>G | GRCh38 |
NC_000004.11:g.72649820T>G , CM000666.1:g.72649820T>G | GRCh37 |
NC_000004.10:g.72868684T>G | NCBI36 |
NG_012837.2:g.26418A>C | |
NG_012837.3:g.26418A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000273951.12:c.-85A>C | ENSP00000273951.8:n.-85A>C | |
ENST00000504199.5:c.22-49A>C | ENSP00000421725.1:n.22-49A>C | |
ENST00000506245.1:c.-36-49A>C | ENSP00000426718.1:n.-36-49A>C | |
NM_000583.3:c.-85A>C | NP_000574.2:n.-85A>C | |
NM_001204306.1:c.-36-49A>C | NP_001191235.1:n.-36-49A>C | |
NM_001204307.1:c.22-49A>C | NP_001191236.1:n.22-49A>C | |
XM_006714177.2:c.-85A>C | XP_006714240.1:n.-85A>C |