Linked Data
dbSNP Id:
rs1203151428
gnomAD v2:
11-118210373-G-A
gnomAD v3:
11-118339658-G-A
gnomAD v4:
11-118339658-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339658G>A , CM000673.2:g.118339658G>A | GRCh38 |
| NC_000011.9:g.118210373G>A , CM000673.1:g.118210373G>A | GRCh37 |
| NC_000011.8:g.117715583G>A | NCBI36 |
| NG_007566.1:g.315G>A , LRG_39:g.315G>A | |
| NG_009891.1:g.8087C>T , LRG_37:g.8087C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.1010C>T | ||
| ENST00000695667.1:n.528C>T | ||
| ENST00000300692.9:c.406+117C>T MANE Select | ENSP00000300692.4:n.406+117C>T | |
| ENST00000300692.8:c.406+117C>T | ENSP00000300692.4:n.406+117C>T | |
| ENST00000392884.2:c.275-164C>T | ENSP00000376622.2:n.275-164C>T | |
| ENST00000526561.1:n.80-164C>T | ||
| ENST00000529594.5:c.187+117C>T | ENSP00000437335.1:n.187+117C>T | |
| ENST00000534687.5:c.288-164C>T | ||
| NM_000732.4:c.406+117C>T , LRG_37t1:c.406+117C>T | NP_000723.1:n.406+117C>T | |
| NM_001040651.1:c.275-164C>T | NP_001035741.1:n.275-164C>T | |
| NM_001040651.2:c.275-164C>T | NP_001035741.1:n.275-164C>T | |
| NM_000732.6:c.406+117C>T MANE Select | NP_000723.1:n.406+117C>T |