Linked Data
dbSNP Id:
rs372317443
ExAC:
1:115227009 A / G
gnomAD v2:
1-115227009-A-G
gnomAD v3:
1-114684388-A-G
gnomAD v4:
1-114684388-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684388A>G , CM000663.2:g.114684388A>G | GRCh38 |
| NC_000001.10:g.115227009A>G , CM000663.1:g.115227009A>G | GRCh37 |
| NC_000001.9:g.115028532A>G | NCBI36 |
| NG_008012.1:g.16168T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.370-24T>C | ENSP00000358551.4:n.370-24T>C | |
| ENST00000520113.7:c.382-24T>C MANE Select | ENSP00000430075.3:n.382-24T>C | |
| ENST00000637080.1:c.385-24T>C | ENSP00000489753.1:n.385-24T>C | |
| ENST00000639077.1:n.47-24T>C | ||
| ENST00000369538.3:c.469-24T>C | ENSP00000358551.3:n.469-24T>C | |
| ENST00000485564.3:n.256-24T>C | ||
| ENST00000520113.6:c.481-24T>C | ENSP00000430075.2:n.481-24T>C | |
| NM_000036.2:c.481-24T>C | NP_000027.2:n.481-24T>C | |
| NM_001172626.1:c.469-24T>C | NP_001166097.1:n.469-24T>C | |
| NM_000036.3:c.382-24T>C MANE Select | NP_000027.3:n.382-24T>C | |
| NM_001172626.2:c.370-24T>C | NP_001166097.2:n.370-24T>C |