Linked Data
dbSNP Id:
rs757289151
gnomAD v2:
1-113941069-A-G
gnomAD v3:
1-113398447-A-G
gnomAD v4:
1-113398447-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113398447A>G , CM000663.2:g.113398447A>G | GRCh38 |
| NC_000001.10:g.113941069A>G , CM000663.1:g.113941069A>G | GRCh37 |
| NC_000001.9:g.113742592A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307546.14:c.316+7098A>G MANE Select | ENSP00000304604.9:n.316+7098A>G | |
| ENST00000307546.13:c.316+7098A>G | ENSP00000304604.9:n.316+7098A>G | |
| ENST00000369611.4:c.316+7098A>G | ENSP00000358624.4:n.316+7098A>G | |
| ENST00000369615.5:c.316+7098A>G | ENSP00000358628.1:n.316+7098A>G | |
| ENST00000369617.8:c.316+7098A>G | ENSP00000358630.4:n.316+7098A>G | |
| ENST00000477955.1:n.90-5208A>G | ||
| ENST00000486456.1:n.219+7098A>G | ||
| NM_001142782.1:c.316+7098A>G | NP_001136254.1:n.316+7098A>G | |
| NM_152900.2:c.316+7098A>G | NP_690864.2:n.316+7098A>G | |
| XM_005270737.2:c.316+7098A>G | XP_005270794.1:n.316+7098A>G | |
| XR_946601.1:n.876+7098A>G | ||
| XM_005270737.3:c.316+7098A>G | XP_005270794.1:n.316+7098A>G | |
| XM_011541208.2:c.-1941+7098A>G | XP_011539510.1:n.-1941+7098A>G | |
| XM_017000974.1:c.316+7098A>G | XP_016856463.1:n.316+7098A>G | |
| XR_001737106.1:n.876+7098A>G | ||
| XR_946601.2:n.876+7098A>G | ||
| NM_001142782.2:c.316+7098A>G MANE Select | NP_001136254.1:n.316+7098A>G | |
| NM_152900.3:c.316+7098A>G | NP_690864.2:n.316+7098A>G |