Linked Data
dbSNP Id:
rs1230666
gnomAD v2:
1-114173410-A-G
gnomAD v3:
1-113630788-A-G
gnomAD v4:
1-113630788-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113630788A>G , CM000663.2:g.113630788A>G | GRCh38 |
| NC_000001.10:g.114173410A>G , CM000663.1:g.114173410A>G | GRCh37 |
| NC_000001.9:g.113974933A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307546.14:c.1360+7794A>G MANE Select | ENSP00000304604.9:n.1360+7794A>G | |
| ENST00000307546.13:c.1360+7794A>G | ENSP00000304604.9:n.1360+7794A>G | |
| ENST00000369611.4:c.1360+7794A>G | ENSP00000358624.4:n.1360+7794A>G | |
| ENST00000369615.5:c.1360+7794A>G | ENSP00000358628.1:n.1360+7794A>G | |
| ENST00000369617.8:c.1435+7794A>G | ENSP00000358630.4:n.1435+7794A>G | |
| NM_001142782.1:c.1360+7794A>G | NP_001136254.1:n.1360+7794A>G | |
| NM_152900.2:c.1360+7794A>G | NP_690864.2:n.1360+7794A>G | |
| XM_005270737.2:c.1360+7794A>G | XP_005270794.1:n.1360+7794A>G | |
| XM_011541208.1:c.676+7794A>G | XP_011539510.1:n.676+7794A>G | |
| XR_946601.1:n.1920+7794A>G | ||
| XM_005270737.3:c.1360+7794A>G | XP_005270794.1:n.1360+7794A>G | |
| XM_011541208.2:c.676+7794A>G | XP_011539510.1:n.676+7794A>G | |
| XM_017000974.1:c.1360+7794A>G | XP_016856463.1:n.1360+7794A>G | |
| XM_017000975.1:c.187+7794A>G | XP_016856464.1:n.187+7794A>G | |
| XR_001737106.1:n.1920+7794A>G | ||
| XR_946601.2:n.1920+7794A>G | ||
| NM_001142782.2:c.1360+7794A>G MANE Select | NP_001136254.1:n.1360+7794A>G | |
| NM_152900.3:c.1360+7794A>G | NP_690864.2:n.1360+7794A>G |