Linked Data
dbSNP Id:
rs199347
ExAC:
7:23293746 A / G
gnomAD v2:
7-23293746-A-G
gnomAD v3:
7-23254127-A-G
gnomAD v4:
7-23254127-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23254127A>G , CM000669.2:g.23254127A>G | GRCh38 |
| NC_000007.13:g.23293746A>G , CM000669.1:g.23293746A>G | GRCh37 |
| NC_000007.12:g.23260271A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258733.9:c.224-42A>G MANE Select | ENSP00000258733.5:n.224-42A>G | |
| ENST00000647578.1:c.224-42A>G | ENSP00000497362.1:n.224-42A>G | |
| ENST00000258733.8:c.224-42A>G | ENSP00000258733.4:n.224-42A>G | |
| ENST00000381990.6:c.224-42A>G | ENSP00000371420.2:n.224-42A>G | |
| ENST00000409458.3:c.224-42A>G | ENSP00000386476.3:n.224-42A>G | |
| ENST00000465673.5:n.402-42A>G | ||
| ENST00000487890.5:n.415-42A>G | ||
| ENST00000492512.1:n.304-42A>G | ||
| ENST00000492858.6:n.426-42A>G | ||
| NM_001005340.1:c.224-42A>G | NP_001005340.1:n.224-42A>G | |
| NM_002510.2:c.224-42A>G | NP_002501.1:n.224-42A>G | |
| XM_005249578.1:c.224-42A>G | XP_005249635.1:n.224-42A>G | |
| XM_005249578.3:c.224-42A>G | XP_005249635.1:n.224-42A>G | |
| XM_017011676.2:c.224-42A>G | XP_016867165.1:n.224-42A>G | |
| XM_017011677.2:c.224-42A>G | XP_016867166.1:n.224-42A>G | |
| XM_017011678.2:c.224-42A>G | XP_016867167.1:n.224-42A>G | |
| NM_001005340.2:c.224-42A>G | NP_001005340.1:n.224-42A>G | |
| NM_002510.3:c.224-42A>G MANE Select | NP_002501.1:n.224-42A>G |