Linked Data
ClinVar Variation Id:
1257383
ClinVar RCV Id:
RCV001666533
dbSNP Id:
rs17507066
gnomAD v2:
22-29092720-C-T
gnomAD v3:
22-28696732-C-T
gnomAD v4:
22-28696732-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28696732C>T , CM000684.2:g.28696732C>T | GRCh38 |
| NC_000022.10:g.29092720C>T , CM000684.1:g.29092720C>T | GRCh37 |
| NC_000022.9:g.27422720C>T | NCBI36 |
| NG_008150.1:g.50103G>A | |
| NG_008150.2:g.50135G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711048.1:c.1009-1490G>A | ENSP00000518557.1:n.1009-1490G>A | |
| ENST00000402731.6:c.894+169G>A | ENSP00000384835.2:n.894+169G>A | |
| ENST00000404276.6:c.1095+169G>A MANE Select | ENSP00000385747.1:n.1095+169G>A | |
| ENST00000425190.7:c.432+169G>A | ENSP00000390244.2:n.432+169G>A | |
| ENST00000464581.6:c.435+169G>A | ENSP00000483777.2:n.435+169G>A | |
| ENST00000648295.1:n.647+169G>A | ||
| ENST00000649563.1:c.432+169G>A | ENSP00000496928.1:n.432+169G>A | |
| ENST00000650281.1:c.1095+169G>A | ENSP00000497000.1:n.1095+169G>A | |
| ENST00000328354.10:c.1095+169G>A | ENSP00000329178.6:n.1095+169G>A | |
| ENST00000348295.7:c.1009-859G>A | ENSP00000329012.5:n.1009-859G>A | |
| ENST00000382580.6:c.1224+169G>A | ENSP00000372023.2:n.1224+169G>A | |
| ENST00000402731.5:c.1009-859G>A | ENSP00000384835.1:n.1009-859G>A | |
| ENST00000403642.5:c.822+169G>A | ENSP00000384919.1:n.822+169G>A | |
| ENST00000404276.5:c.1095+169G>A | ENSP00000385747.1:n.1095+169G>A | |
| ENST00000405598.5:c.1095+169G>A | ENSP00000386087.1:n.1095+169G>A | |
| ENST00000416671.5:c.*585+169G>A | ENSP00000402225.1:n.*585+169G>A | |
| ENST00000417588.5:c.1004+169G>A | ENSP00000412901.1:n.1004+169G>A | |
| ENST00000433728.5:c.1033+169G>A | ENSP00000404400.1:n.1033+169G>A | |
| ENST00000434810.5:c.326+169G>A | ||
| ENST00000448511.5:c.985+169G>A | ENSP00000404567.1:n.985+169G>A | |
| ENST00000456369.5:c.263+3106G>A | ||
| NM_001005735.1:c.1224+169G>A | NP_001005735.1:n.1224+169G>A | |
| NM_001257387.1:c.432+169G>A | NP_001244316.1:n.432+169G>A | |
| NM_007194.3:c.1095+169G>A | NP_009125.1:n.1095+169G>A | |
| NM_145862.2:c.1009-859G>A | NP_665861.1:n.1009-859G>A | |
| XM_006724114.2:c.615+169G>A | XP_006724177.1:n.615+169G>A | |
| XM_006724116.2:c.552+169G>A | XP_006724179.2:n.552+169G>A | |
| XM_011529839.1:c.1254+169G>A | XP_011528141.1:n.1254+169G>A | |
| XM_011529840.1:c.1168-859G>A | XP_011528142.1:n.1168-859G>A | |
| XM_011529841.1:c.1023+169G>A | XP_011528143.1:n.1023+169G>A | |
| XM_011529842.1:c.924+169G>A | XP_011528144.1:n.924+169G>A | |
| XM_011529843.1:c.894+169G>A | XP_011528145.1:n.894+169G>A | |
| XM_011529845.1:c.432+169G>A | XP_011528147.1:n.432+169G>A | |
| XR_937805.1:n.1254+169G>A | ||
| XR_937806.1:n.1163-859G>A | ||
| NM_001349956.1:c.894+169G>A | NP_001336885.1:n.894+169G>A | |
| NM_007194.4:c.1095+169G>A MANE Select | NP_009125.1:n.1095+169G>A | |
| XM_006724114.3:c.648+169G>A | XP_006724177.2:n.648+169G>A | |
| XM_011529839.2:c.1254+169G>A | XP_011528141.1:n.1254+169G>A | |
| XM_011529840.3:c.1168-859G>A | XP_011528142.1:n.1168-859G>A | |
| XM_011529842.2:c.924+169G>A | XP_011528144.1:n.924+169G>A | |
| XM_011529845.2:c.432+169G>A | XP_011528147.1:n.432+169G>A | |
| XM_017028560.1:c.1218+169G>A | XP_016884049.1:n.1218+169G>A | |
| XM_017028561.2:c.432+169G>A | XP_016884050.1:n.432+169G>A | |
| XM_024452148.1:c.1125+169G>A | XP_024307916.1:n.1125+169G>A | |
| XM_024452149.1:c.1039-859G>A | XP_024307917.1:n.1039-859G>A | |
| XR_937805.2:n.1265+169G>A | ||
| XR_937806.2:n.1179-859G>A | ||
| NM_001005735.2:c.1224+169G>A | NP_001005735.1:n.1224+169G>A | |
| NM_001257387.2:c.432+169G>A | NP_001244316.1:n.432+169G>A | |
| NM_001349956.2:c.894+169G>A | NP_001336885.1:n.894+169G>A |