Linked Data
ClinVar Variation Id:
2808837
ClinVar RCV Id:
RCV003607811
dbSNP Id:
rs757393834
ExAC:
22:29092993 C / G
gnomAD v2:
22-29092993-C-G
gnomAD v4:
22-28697005-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28697005C>G , CM000684.2:g.28697005C>G | GRCh38 |
| NC_000022.10:g.29092993C>G , CM000684.1:g.29092993C>G | GRCh37 |
| NC_000022.9:g.27422993C>G | NCBI36 |
| NG_008150.1:g.49830G>C | |
| NG_008150.2:g.49862G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-1763G>C | ENSP00000518557.1:n.1009-1763G>C | |
| ENST00000402731.6:c.808-18G>C | ENSP00000384835.2:n.808-18G>C | |
| ENST00000404276.6:c.1009-18G>C MANE Select | ENSP00000385747.1:n.1009-18G>C | |
| ENST00000425190.7:c.346-18G>C | ENSP00000390244.2:n.346-18G>C | |
| ENST00000464581.6:c.349-18G>C | ENSP00000483777.2:n.349-18G>C | |
| ENST00000648295.1:n.561-18G>C | ||
| ENST00000649563.1:c.346-18G>C | ENSP00000496928.1:n.346-18G>C | |
| ENST00000650281.1:c.1009-18G>C | ENSP00000497000.1:n.1009-18G>C | |
| ENST00000328354.10:c.1009-18G>C | ENSP00000329178.6:n.1009-18G>C | |
| ENST00000348295.7:c.1009-1132G>C | ENSP00000329012.5:n.1009-1132G>C | |
| ENST00000382580.6:c.1138-18G>C | ENSP00000372023.2:n.1138-18G>C | |
| ENST00000402731.5:c.1009-1132G>C | ENSP00000384835.1:n.1009-1132G>C | |
| ENST00000403642.5:c.736-18G>C | ENSP00000384919.1:n.736-18G>C | |
| ENST00000404276.5:c.1009-18G>C | ENSP00000385747.1:n.1009-18G>C | |
| ENST00000405598.5:c.1009-18G>C | ENSP00000386087.1:n.1009-18G>C | |
| ENST00000416671.5:c.*499-18G>C | ENSP00000402225.1:n.*499-18G>C | |
| ENST00000417588.5:c.918-18G>C | ENSP00000412901.1:n.918-18G>C | |
| ENST00000425190.6:c.346-18G>C | ENSP00000390244.1:n.346-18G>C | |
| ENST00000433028.6:c.*734-18G>C | ENSP00000403659.1:n.*734-18G>C | |
| ENST00000433728.5:c.947-18G>C | ENSP00000404400.1:n.947-18G>C | |
| ENST00000434810.5:c.240-18G>C | ||
| ENST00000447421.5:c.808-18G>C | ENSP00000397478.2:n.808-18G>C | |
| ENST00000448511.5:c.899-18G>C | ENSP00000404567.1:n.899-18G>C | |
| ENST00000456369.5:c.263+2833G>C | ||
| ENST00000464581.5:c.349-18G>C | ENSP00000483777.1:n.349-18G>C | |
| ENST00000491919.5:n.566-18G>C | ||
| NM_001005735.1:c.1138-18G>C | NP_001005735.1:n.1138-18G>C | |
| NM_001257387.1:c.346-18G>C | NP_001244316.1:n.346-18G>C | |
| NM_007194.3:c.1009-18G>C | NP_009125.1:n.1009-18G>C | |
| NM_145862.2:c.1009-1132G>C | NP_665861.1:n.1009-1132G>C | |
| XM_006724114.2:c.529-18G>C | XP_006724177.1:n.529-18G>C | |
| XM_006724116.2:c.466-18G>C | XP_006724179.2:n.466-18G>C | |
| XM_011529839.1:c.1168-18G>C | XP_011528141.1:n.1168-18G>C | |
| XM_011529840.1:c.1168-1132G>C | XP_011528142.1:n.1168-1132G>C | |
| XM_011529841.1:c.937-18G>C | XP_011528143.1:n.937-18G>C | |
| XM_011529842.1:c.838-18G>C | XP_011528144.1:n.838-18G>C | |
| XM_011529843.1:c.808-18G>C | XP_011528145.1:n.808-18G>C | |
| XM_011529844.1:c.*62G>C | XP_011528146.1:n.*62G>C | |
| XM_011529845.1:c.346-18G>C | XP_011528147.1:n.346-18G>C | |
| XR_937805.1:n.1168-18G>C | ||
| XR_937806.1:n.1163-1132G>C | ||
| NM_001349956.1:c.808-18G>C | NP_001336885.1:n.808-18G>C | |
| NM_007194.4:c.1009-18G>C MANE Select | NP_009125.1:n.1009-18G>C | |
| XM_006724114.3:c.562-18G>C | XP_006724177.2:n.562-18G>C | |
| XM_011529839.2:c.1168-18G>C | XP_011528141.1:n.1168-18G>C | |
| XM_011529840.3:c.1168-1132G>C | XP_011528142.1:n.1168-1132G>C | |
| XM_011529842.2:c.838-18G>C | XP_011528144.1:n.838-18G>C | |
| XM_011529844.2:c.*62G>C | XP_011528146.1:n.*62G>C | |
| XM_011529845.2:c.346-18G>C | XP_011528147.1:n.346-18G>C | |
| XM_017028560.1:c.1132-18G>C | XP_016884049.1:n.1132-18G>C | |
| XM_017028561.2:c.346-18G>C | XP_016884050.1:n.346-18G>C | |
| XM_024452148.1:c.1039-18G>C | XP_024307916.1:n.1039-18G>C | |
| XM_024452149.1:c.1039-1132G>C | XP_024307917.1:n.1039-1132G>C | |
| XR_937805.2:n.1179-18G>C | ||
| XR_937806.2:n.1179-1132G>C | ||
| NM_001005735.2:c.1138-18G>C | NP_001005735.1:n.1138-18G>C | |
| NM_001257387.2:c.346-18G>C | NP_001244316.1:n.346-18G>C | |
| NM_001349956.2:c.808-18G>C | NP_001336885.1:n.808-18G>C |