HGVS | Genome Assembly |
---|---|
NC_000023.11:g.124346387T>C , CM000685.2:g.124346387T>C | GRCh38 |
NC_000023.10:g.123480237T>C , CM000685.1:g.123480237T>C | GRCh37 |
NC_000023.9:g.123307918T>C | NCBI36 |
NG_007464.1:g.5088T>C , LRG_106:g.5088T>C | |
NG_033796.2:g.390828T>C , LRG_782:g.390828T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698112.1:n.499-19374T>C (SH2D1A) | ||
ENST00000698113.1:c.-256T>C (SH2D1A) | ENSP00000513571.1:n.-256T>C | |
ENST00000698114.1:n.17T>C (SH2D1A) | ||
ENST00000371139.8:c.-256T>C (SH2D1A) | ENSP00000360181.4:n.-256T>C | |
ENST00000469481.1:n.454-65435T>C (STAG2) | ||
ENST00000635645.1:n.499-19374T>C (SH2D1A) | ||
NM_001114937.2:c.-256T>C (SH2D1A) | NP_001108409.1:n.-256T>C | |
NM_002351.4:c.-256T>C , LRG_106t1:c.-256T>C (SH2D1A) | NP_002342.1:n.-256T>C |