Linked Data
ClinVar Variation Id:
128041
ClinVar RCV Id:
RCV000197200
RCV000590166
RCV000722128
RCV000776065
RCV001357979
RCV003224152
RCV004542827
dbSNP Id:
rs376995740
ExAC:
22:29130715 C / T
gnomAD v2:
22-29130715-C-T
gnomAD v3:
22-28734727-C-T
gnomAD v4:
22-28734727-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28734727C>T , CM000684.2:g.28734727C>T | GRCh38 |
| NC_000022.10:g.29130715C>T , CM000684.1:g.29130715C>T | GRCh37 |
| NC_000022.9:g.27460715C>T | NCBI36 |
| NG_008150.1:g.12108G>A | |
| NG_008150.2:g.12140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454252.2:c.-6G>A | ENSP00000387451.2:n.-6G>A | |
| ENST00000711048.1:c.-6G>A | ENSP00000518557.1:n.-6G>A | |
| ENST00000398017.3:c.-6G>A | ENSP00000381099.3:n.-6G>A | |
| ENST00000402731.6:c.-6G>A | ENSP00000384835.2:n.-6G>A | |
| ENST00000404276.6:c.-6G>A MANE Select | ENSP00000385747.1:n.-6G>A | |
| ENST00000425190.7:c.-345+7042G>A | ENSP00000390244.2:n.-345+7042G>A | |
| ENST00000649563.1:c.-72+7042G>A | ENSP00000496928.1:n.-72+7042G>A | |
| ENST00000650233.1:c.-6G>A | ENSP00000497699.1:n.-6G>A | |
| ENST00000650281.1:c.-6G>A | ENSP00000497000.1:n.-6G>A | |
| ENST00000328354.10:c.-6G>A | ENSP00000329178.6:n.-6G>A | |
| ENST00000348295.7:c.-6G>A | ENSP00000329012.5:n.-6G>A | |
| ENST00000382565.5:c.-6G>A | ENSP00000372006.2:n.-6G>A | |
| ENST00000382580.6:c.-6G>A | ENSP00000372023.2:n.-6G>A | |
| ENST00000398017.2:c.25G>A | ENSP00000381099.2:p.Val9Ile | |
| ENST00000405598.5:c.-6G>A | ENSP00000386087.1:n.-6G>A | |
| ENST00000416671.5:c.-6G>A | ENSP00000402225.1:n.-6G>A | |
| ENST00000425190.6:c.-345+7042G>A | ENSP00000390244.1:n.-345+7042G>A | |
| ENST00000433028.6:c.-6G>A | ENSP00000403659.1:n.-6G>A | |
| ENST00000439200.5:c.-6G>A | ENSP00000408065.1:n.-6G>A | |
| ENST00000447421.5:c.-6G>A | ENSP00000397478.2:n.-6G>A | |
| NM_001005735.1:c.-6G>A | NP_001005735.1:n.-6G>A | |
| NM_001257387.1:c.-783G>A | NP_001244316.1:n.-783G>A | |
| NM_007194.3:c.-6G>A | NP_009125.1:n.-6G>A | |
| NM_145862.2:c.-6G>A | NP_665861.1:n.-6G>A | |
| XM_011529839.1:c.25G>A | XP_011528141.1:p.Val9Ile | |
| XM_011529840.1:c.25G>A | XP_011528142.1:p.Val9Ile | |
| XM_011529841.1:c.-6G>A | XP_011528143.1:n.-6G>A | |
| XM_011529842.1:c.25G>A | XP_011528144.1:p.Val9Ile | |
| XM_011529843.1:c.-6G>A | XP_011528145.1:n.-6G>A | |
| XM_011529844.1:c.25G>A | XP_011528146.1:p.Val9Ile | |
| XM_011529845.1:c.-345+7042G>A | XP_011528147.1:n.-345+7042G>A | |
| XR_937805.1:n.87G>A | ||
| XR_937806.1:n.82G>A | ||
| XR_937807.1:n.82G>A | ||
| NM_001349956.1:c.-6G>A | NP_001336885.1:n.-6G>A | |
| NM_007194.4:c.-6G>A MANE Select | NP_009125.1:n.-6G>A | |
| XM_011529839.2:c.25G>A | XP_011528141.1:p.Val9Ile | |
| XM_011529840.3:c.25G>A | XP_011528142.1:p.Val9Ile | |
| XM_011529842.2:c.25G>A | XP_011528144.1:p.Val9Ile | |
| XM_011529844.2:c.25G>A | XP_011528146.1:p.Val9Ile | |
| XM_011529845.2:c.-345+7042G>A | XP_011528147.1:n.-345+7042G>A | |
| XM_017028560.1:c.25G>A | XP_016884049.1:p.Val9Ile | |
| XM_024452148.1:c.25G>A | XP_024307916.1:p.Val9Ile | |
| XM_024452149.1:c.25G>A | XP_024307917.1:p.Val9Ile | |
| XR_937805.2:n.98G>A | ||
| XR_937806.2:n.98G>A | ||
| XR_937807.2:n.98G>A | ||
| NM_001005735.2:c.-6G>A | NP_001005735.1:n.-6G>A | |
| NM_001257387.2:c.-783G>A | NP_001244316.1:n.-783G>A | |
| NM_001349956.2:c.-6G>A | NP_001336885.1:n.-6G>A |