Linked Data
ClinVar Variation Id:
126909
ClinVar RCV Id:
RCV000114765
RCV000160437
RCV000196666
RCV000515378
RCV000449435
RCV001147096
RCV001356532
RCV001798305
dbSNP Id:
rs121908705
ExAC:
22:29091154 T / C
gnomAD v2:
22-29091154-T-C
gnomAD v3:
22-28695166-T-C
gnomAD v4:
22-28695166-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695166T>C , CM000684.2:g.28695166T>C | GRCh38 |
| NC_000022.10:g.29091154T>C , CM000684.1:g.29091154T>C | GRCh37 |
| NC_000022.9:g.27421154T>C | NCBI36 |
| NG_008150.1:g.51669A>G | |
| NG_008150.2:g.51701A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*71A>G | ENSP00000518557.1:n.*71A>G | |
| ENST00000402731.6:c.1135A>G | ENSP00000384835.2:p.Asn379Asp | |
| ENST00000404276.6:c.1336A>G MANE Select | ENSP00000385747.1:p.Asn446Asp | |
| ENST00000425190.7:c.673A>G | ENSP00000390244.2:p.Asn225Asp | |
| ENST00000464581.6:c.676A>G | ENSP00000483777.2:p.Asn226Asp | |
| ENST00000648295.1:n.888A>G | ||
| ENST00000649563.1:c.673A>G | ENSP00000496928.1:p.Asn225Asp | |
| ENST00000650281.1:c.1336A>G | ENSP00000497000.1:p.Asn446Asp | |
| ENST00000328354.10:c.1336A>G | ENSP00000329178.6:p.Asn446Asp | |
| ENST00000348295.7:c.1249A>G | ENSP00000329012.5:p.Asn417Asp | |
| ENST00000382580.6:c.1465A>G | ENSP00000372023.2:p.Asn489Asp | |
| ENST00000402731.5:c.1249A>G | ENSP00000384835.1:p.Asn417Asp | |
| ENST00000403642.5:c.1063A>G | ENSP00000384919.1:p.Asn355Asp | |
| ENST00000404276.5:c.1336A>G | ENSP00000385747.1:p.Asn446Asp | |
| ENST00000405598.5:c.1336A>G | ENSP00000386087.1:p.Asn446Asp | |
| ENST00000416671.5:c.*826A>G | ENSP00000402225.1:n.*826A>G | |
| ENST00000417588.5:c.1245A>G | ENSP00000412901.1:n.1245A>G | |
| ENST00000433728.5:c.1274A>G | ENSP00000404400.1:n.1274A>G | |
| ENST00000434810.5:c.534A>G | ||
| ENST00000448511.5:c.1226A>G | ENSP00000404567.1:n.1226A>G | |
| ENST00000456369.5:c.263+4672A>G | ||
| NM_001005735.1:c.1465A>G | NP_001005735.1:p.Asn489Asp | |
| NM_001257387.1:c.673A>G | NP_001244316.1:p.Asn225Asp | |
| NM_007194.3:c.1336A>G | NP_009125.1:p.Asn446Asp | |
| NM_145862.2:c.1249A>G | NP_665861.1:p.Asn417Asp | |
| XM_006724114.2:c.856A>G | XP_006724177.1:p.Asn286Asp | |
| XM_006724116.2:c.793A>G | XP_006724179.2:p.Asn265Asp | |
| XM_011529839.1:c.1495A>G | XP_011528141.1:p.Asn499Asp | |
| XM_011529840.1:c.1408A>G | XP_011528142.1:p.Asn470Asp | |
| XM_011529841.1:c.1264A>G | XP_011528143.1:p.Asn422Asp | |
| XM_011529842.1:c.1165A>G | XP_011528144.1:p.Asn389Asp | |
| XM_011529843.1:c.1135A>G | XP_011528145.1:p.Asn379Asp | |
| XM_011529845.1:c.673A>G | XP_011528147.1:p.Asn225Asp | |
| XR_937805.1:n.1495A>G | ||
| NM_001349956.1:c.1135A>G | NP_001336885.1:p.Asn379Asp | |
| NM_007194.4:c.1336A>G MANE Select | NP_009125.1:p.Asn446Asp | |
| XM_006724114.3:c.889A>G | XP_006724177.2:p.Asn297Asp | |
| XM_011529839.2:c.1495A>G | XP_011528141.1:p.Asn499Asp | |
| XM_011529840.3:c.1408A>G | XP_011528142.1:p.Asn470Asp | |
| XM_011529842.2:c.1165A>G | XP_011528144.1:p.Asn389Asp | |
| XM_011529845.2:c.673A>G | XP_011528147.1:p.Asn225Asp | |
| XM_017028560.1:c.1459A>G | XP_016884049.1:p.Asn487Asp | |
| XM_017028561.2:c.673A>G | XP_016884050.1:p.Asn225Asp | |
| XM_024452148.1:c.1366A>G | XP_024307916.1:p.Asn456Asp | |
| XM_024452149.1:c.1279A>G | XP_024307917.1:p.Asn427Asp | |
| XR_937805.2:n.1506A>G | ||
| NM_001005735.2:c.1465A>G | NP_001005735.1:p.Asn489Asp | |
| NM_001257387.2:c.673A>G | NP_001244316.1:p.Asn225Asp | |
| NM_001349956.2:c.1135A>G | NP_001336885.1:p.Asn379Asp |