Linked Data
dbSNP Id:
rs771585589
ExAC:
11:118210444 C / G
gnomAD v2:
11-118210444-C-G
gnomAD v4:
11-118339729-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339729C>G , CM000673.2:g.118339729C>G | GRCh38 |
| NC_000011.9:g.118210444C>G , CM000673.1:g.118210444C>G | GRCh37 |
| NC_000011.8:g.117715654C>G | NCBI36 |
| NG_007566.1:g.386C>G , LRG_39:g.386C>G | |
| NG_009891.1:g.8016G>C , LRG_37:g.8016G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.939G>C | ||
| ENST00000695667.1:n.457G>C | ||
| ENST00000695668.1:n.2437G>C | ||
| ENST00000300692.9:c.406+46G>C MANE Select | ENSP00000300692.4:n.406+46G>C | |
| ENST00000300692.8:c.406+46G>C | ENSP00000300692.4:n.406+46G>C | |
| ENST00000392884.2:c.275-235G>C | ENSP00000376622.2:n.275-235G>C | |
| ENST00000526561.1:n.80-235G>C | ||
| ENST00000529594.5:c.187+46G>C | ENSP00000437335.1:n.187+46G>C | |
| ENST00000534687.5:c.288-235G>C | ||
| NM_000732.4:c.406+46G>C , LRG_37t1:c.406+46G>C | NP_000723.1:n.406+46G>C | |
| NM_001040651.1:c.275-235G>C | NP_001035741.1:n.275-235G>C | |
| NM_001040651.2:c.275-235G>C | NP_001035741.1:n.275-235G>C | |
| NM_000732.6:c.406+46G>C MANE Select | NP_000723.1:n.406+46G>C |