Linked Data
ClinVar Variation Id:
418624
dbSNP Id:
rs1064793330
gnomAD v2:
22-29090118-T-C
gnomAD v3:
22-28694130-T-C
gnomAD v4:
22-28694130-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28694130T>C , CM000684.2:g.28694130T>C | GRCh38 |
| NC_000022.10:g.29090118T>C , CM000684.1:g.29090118T>C | GRCh37 |
| NC_000022.9:g.27420118T>C | NCBI36 |
| NG_008150.1:g.52705A>G | |
| NG_008150.2:g.52737A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*111-13A>G | ENSP00000518557.1:n.*111-13A>G | |
| ENST00000402731.6:c.1175-13A>G | ENSP00000384835.2:n.1175-13A>G | |
| ENST00000404276.6:c.1376-13A>G MANE Select | ENSP00000385747.1:n.1376-13A>G | |
| ENST00000425190.7:c.713-13A>G | ENSP00000390244.2:n.713-13A>G | |
| ENST00000464581.6:c.716-13A>G | ENSP00000483777.2:n.716-13A>G | |
| ENST00000648295.1:n.928-13A>G | ||
| ENST00000649563.1:c.713-13A>G | ENSP00000496928.1:n.713-13A>G | |
| ENST00000650281.1:c.1376-13A>G | ENSP00000497000.1:n.1376-13A>G | |
| ENST00000328354.10:c.1376-13A>G | ENSP00000329178.6:n.1376-13A>G | |
| ENST00000348295.7:c.1289-13A>G | ENSP00000329012.5:n.1289-13A>G | |
| ENST00000382580.6:c.1505-13A>G | ENSP00000372023.2:n.1505-13A>G | |
| ENST00000402731.5:c.1289-13A>G | ENSP00000384835.1:n.1289-13A>G | |
| ENST00000403642.5:c.1103-13A>G | ENSP00000384919.1:n.1103-13A>G | |
| ENST00000404276.5:c.1376-13A>G | ENSP00000385747.1:n.1376-13A>G | |
| ENST00000405598.5:c.1376-13A>G | ENSP00000386087.1:n.1376-13A>G | |
| ENST00000416671.5:c.*866-13A>G | ENSP00000402225.1:n.*866-13A>G | |
| ENST00000417588.5:c.1285-13A>G | ENSP00000412901.1:n.1285-13A>G | |
| ENST00000433728.5:c.1314-13A>G | ENSP00000404400.1:n.1314-13A>G | |
| ENST00000434810.5:c.574-13A>G | ||
| ENST00000448511.5:c.1266-13A>G | ENSP00000404567.1:n.1266-13A>G | |
| ENST00000456369.5:c.264-4915A>G | ||
| NM_001005735.1:c.1505-13A>G | NP_001005735.1:n.1505-13A>G | |
| NM_001257387.1:c.713-13A>G | NP_001244316.1:n.713-13A>G | |
| NM_007194.3:c.1376-13A>G | NP_009125.1:n.1376-13A>G | |
| NM_145862.2:c.1289-13A>G | NP_665861.1:n.1289-13A>G | |
| XM_006724114.2:c.896-13A>G | XP_006724177.1:n.896-13A>G | |
| XM_006724116.2:c.833-13A>G | XP_006724179.2:n.833-13A>G | |
| XM_011529839.1:c.1535-13A>G | XP_011528141.1:n.1535-13A>G | |
| XM_011529840.1:c.1448-13A>G | XP_011528142.1:n.1448-13A>G | |
| XM_011529841.1:c.1304-13A>G | XP_011528143.1:n.1304-13A>G | |
| XM_011529842.1:c.1205-13A>G | XP_011528144.1:n.1205-13A>G | |
| XM_011529843.1:c.1175-13A>G | XP_011528145.1:n.1175-13A>G | |
| XM_011529845.1:c.713-13A>G | XP_011528147.1:n.713-13A>G | |
| XR_937805.1:n.1535-13A>G | ||
| NM_001349956.1:c.1175-13A>G | NP_001336885.1:n.1175-13A>G | |
| NM_007194.4:c.1376-13A>G MANE Select | NP_009125.1:n.1376-13A>G | |
| XM_006724114.3:c.929-13A>G | XP_006724177.2:n.929-13A>G | |
| XM_011529839.2:c.1535-13A>G | XP_011528141.1:n.1535-13A>G | |
| XM_011529840.3:c.1448-13A>G | XP_011528142.1:n.1448-13A>G | |
| XM_011529842.2:c.1205-13A>G | XP_011528144.1:n.1205-13A>G | |
| XM_011529845.2:c.713-13A>G | XP_011528147.1:n.713-13A>G | |
| XM_017028560.1:c.1499-13A>G | XP_016884049.1:n.1499-13A>G | |
| XM_017028561.2:c.713-13A>G | XP_016884050.1:n.713-13A>G | |
| XM_024452148.1:c.1406-13A>G | XP_024307916.1:n.1406-13A>G | |
| XM_024452149.1:c.1319-13A>G | XP_024307917.1:n.1319-13A>G | |
| XR_937805.2:n.1546-13A>G | ||
| NM_001005735.2:c.1505-13A>G | NP_001005735.1:n.1505-13A>G | |
| NM_001257387.2:c.713-13A>G | NP_001244316.1:n.713-13A>G | |
| NM_001349956.2:c.1175-13A>G | NP_001336885.1:n.1175-13A>G |