Linked Data
ClinVar Variation Id:
128075
ClinVar RCV Id:
RCV000116017
RCV000212418
RCV000210090
RCV000501923
RCV000196718
RCV001354639
RCV001554253
RCV001270936
RCV001705823
RCV001171461
RCV003128145
RCV003333693
RCV000763475
RCV000779368
RCV002463642
RCV002508922
dbSNP Id:
rs121908698
ExAC:
22:29121230 C / T
gnomAD v2:
22-29121230-C-T
gnomAD v3:
22-28725242-C-T
gnomAD v4:
22-28725242-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28725242C>T , CM000684.2:g.28725242C>T | GRCh38 |
| NC_000022.10:g.29121230C>T , CM000684.1:g.29121230C>T | GRCh37 |
| NC_000022.9:g.27451230C>T | NCBI36 |
| NG_008150.1:g.21593G>A | |
| NG_008150.2:g.21625G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.444+1G>A | ENSP00000396903.2:n.444+1G>A | |
| ENST00000454252.2:c.*424+1G>A | ENSP00000387451.2:n.*424+1G>A | |
| ENST00000711048.1:c.444+1G>A | ENSP00000518557.1:n.444+1G>A | |
| ENST00000398017.3:c.444+1G>A | ENSP00000381099.3:n.444+1G>A | |
| ENST00000402731.6:c.444+1G>A | ENSP00000384835.2:n.444+1G>A | |
| ENST00000404276.6:c.444+1G>A MANE Select | ENSP00000385747.1:n.444+1G>A | |
| ENST00000425190.7:c.-220+1G>A | ENSP00000390244.2:n.-220+1G>A | |
| ENST00000649563.1:c.-71-5757G>A | ENSP00000496928.1:n.-71-5757G>A | |
| ENST00000650233.1:c.444+1G>A | ENSP00000497699.1:n.444+1G>A | |
| ENST00000650281.1:c.444+1G>A | ENSP00000497000.1:n.444+1G>A | |
| ENST00000328354.10:c.444+1G>A | ENSP00000329178.6:n.444+1G>A | |
| ENST00000348295.7:c.444+1G>A | ENSP00000329012.5:n.444+1G>A | |
| ENST00000382565.5:c.444+1G>A | ENSP00000372006.2:n.444+1G>A | |
| ENST00000382580.6:c.573+1G>A | ENSP00000372023.2:n.573+1G>A | |
| ENST00000398017.2:c.474+1G>A | ENSP00000381099.2:n.474+1G>A | |
| ENST00000402731.5:c.444+1G>A | ENSP00000384835.1:n.444+1G>A | |
| ENST00000403642.5:c.320-5757G>A | ENSP00000384919.1:n.320-5757G>A | |
| ENST00000404276.5:c.444+1G>A | ENSP00000385747.1:n.444+1G>A | |
| ENST00000405598.5:c.444+1G>A | ENSP00000386087.1:n.444+1G>A | |
| ENST00000416671.5:c.444+1G>A | ENSP00000402225.1:n.444+1G>A | |
| ENST00000417588.5:c.444+1G>A | ENSP00000412901.1:n.444+1G>A | |
| ENST00000425190.6:c.-220+1G>A | ENSP00000390244.1:n.-220+1G>A | |
| ENST00000433028.6:c.444+1G>A | ENSP00000403659.1:n.444+1G>A | |
| ENST00000433728.5:c.444+1G>A | ENSP00000404400.1:n.444+1G>A | |
| ENST00000439200.5:c.537+1G>A | ENSP00000408065.1:n.537+1G>A | |
| ENST00000439346.5:c.6+1G>A | ENSP00000396903.1:n.6+1G>A | |
| ENST00000447421.5:c.444+1G>A | ENSP00000397478.2:n.444+1G>A | |
| ENST00000448511.5:c.444+1G>A | ENSP00000404567.1:n.444+1G>A | |
| ENST00000454252.1:c.562+1G>A | ENSP00000387451.1:n.562+1G>A | |
| NM_001005735.1:c.573+1G>A | NP_001005735.1:n.573+1G>A | |
| NM_001257387.1:c.-334+1G>A | NP_001244316.1:n.-334+1G>A | |
| NM_007194.3:c.444+1G>A | NP_009125.1:n.444+1G>A | |
| NM_145862.2:c.444+1G>A | NP_665861.1:n.444+1G>A | |
| XM_011529839.1:c.603+1G>A | XP_011528141.1:n.603+1G>A | |
| XM_011529840.1:c.603+1G>A | XP_011528142.1:n.603+1G>A | |
| XM_011529841.1:c.573+1G>A | XP_011528143.1:n.573+1G>A | |
| XM_011529842.1:c.474+1G>A | XP_011528144.1:n.474+1G>A | |
| XM_011529843.1:c.444+1G>A | XP_011528145.1:n.444+1G>A | |
| XM_011529844.1:c.603+1G>A | XP_011528146.1:n.603+1G>A | |
| XM_011529845.1:c.-220+1G>A | XP_011528147.1:n.-220+1G>A | |
| XR_937805.1:n.665+1G>A | ||
| XR_937806.1:n.660+1G>A | ||
| XR_937807.1:n.660+1G>A | ||
| NM_001349956.1:c.444+1G>A | NP_001336885.1:n.444+1G>A | |
| NM_007194.4:c.444+1G>A MANE Select | NP_009125.1:n.444+1G>A | |
| XM_011529839.2:c.603+1G>A | XP_011528141.1:n.603+1G>A | |
| XM_011529840.3:c.603+1G>A | XP_011528142.1:n.603+1G>A | |
| XM_011529842.2:c.474+1G>A | XP_011528144.1:n.474+1G>A | |
| XM_011529844.2:c.603+1G>A | XP_011528146.1:n.603+1G>A | |
| XM_011529845.2:c.-220+1G>A | XP_011528147.1:n.-220+1G>A | |
| XM_017028560.1:c.567+1G>A | XP_016884049.1:n.567+1G>A | |
| XM_024452148.1:c.474+1G>A | XP_024307916.1:n.474+1G>A | |
| XM_024452149.1:c.474+1G>A | XP_024307917.1:n.474+1G>A | |
| XR_937805.2:n.676+1G>A | ||
| XR_937806.2:n.676+1G>A | ||
| XR_937807.2:n.676+1G>A | ||
| NM_001005735.2:c.573+1G>A | NP_001005735.1:n.573+1G>A | |
| NM_001257387.2:c.-334+1G>A | NP_001244316.1:n.-334+1G>A | |
| NM_001349956.2:c.444+1G>A | NP_001336885.1:n.444+1G>A |