Linked Data
ClinVar Variation Id:
819168
ClinVar RCV Id:
RCV003607369
dbSNP Id:
rs1601716189
gnomAD v4:
22-28694068-A-G
MyVariant Identifiers:
chr22:g.29090056A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28694068A>G , CM000684.2:g.28694068A>G | GRCh38 |
| NC_000022.10:g.29090056A>G , CM000684.1:g.29090056A>G | GRCh37 |
| NC_000022.9:g.27420056A>G | NCBI36 |
| NG_008150.1:g.52767T>C | |
| NG_008150.2:g.52799T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711048.1:c.*160T>C | ENSP00000518557.1:n.*160T>C | |
| ENST00000402731.6:c.1224T>C | ENSP00000384835.2:p.Phe408= | |
| ENST00000404276.6:c.1425T>C MANE Select | ENSP00000385747.1:p.Phe475= | |
| ENST00000425190.7:c.762T>C | ENSP00000390244.2:p.Phe254= | |
| ENST00000464581.6:c.765T>C | ENSP00000483777.2:p.Phe255= | |
| ENST00000648295.1:n.977T>C | ||
| ENST00000649563.1:c.762T>C | ENSP00000496928.1:p.Phe254= | |
| ENST00000650281.1:c.1425T>C | ENSP00000497000.1:p.Phe475= | |
| ENST00000328354.10:c.1425T>C | ENSP00000329178.6:p.Phe475= | |
| ENST00000348295.7:c.1338T>C | ENSP00000329012.5:p.Phe446= | |
| ENST00000382580.6:c.1554T>C | ENSP00000372023.2:p.Phe518= | |
| ENST00000402731.5:c.1338T>C | ENSP00000384835.1:p.Phe446= | |
| ENST00000403642.5:c.1152T>C | ENSP00000384919.1:p.Phe384= | |
| ENST00000404276.5:c.1425T>C | ENSP00000385747.1:p.Phe475= | |
| ENST00000405598.5:c.1425T>C | ENSP00000386087.1:p.Phe475= | |
| ENST00000416671.5:c.*915T>C | ENSP00000402225.1:n.*915T>C | |
| ENST00000417588.5:c.1334T>C | ENSP00000412901.1:n.1334T>C | |
| ENST00000433728.5:c.1363T>C | ENSP00000404400.1:n.1363T>C | |
| ENST00000434810.5:c.623T>C | ||
| ENST00000448511.5:c.1315T>C | ENSP00000404567.1:n.1315T>C | |
| ENST00000456369.5:c.264-4853T>C | ||
| NM_001005735.1:c.1554T>C | NP_001005735.1:p.Phe518= | |
| NM_001257387.1:c.762T>C | NP_001244316.1:p.Phe254= | |
| NM_007194.3:c.1425T>C | NP_009125.1:p.Phe475= | |
| NM_145862.2:c.1338T>C | NP_665861.1:p.Phe446= | |
| XM_006724114.2:c.945T>C | XP_006724177.1:p.Phe315= | |
| XM_006724116.2:c.882T>C | XP_006724179.2:p.Phe294= | |
| XM_011529839.1:c.1584T>C | XP_011528141.1:p.Phe528= | |
| XM_011529840.1:c.1497T>C | XP_011528142.1:p.Phe499= | |
| XM_011529841.1:c.1353T>C | XP_011528143.1:p.Phe451= | |
| XM_011529842.1:c.1254T>C | XP_011528144.1:p.Phe418= | |
| XM_011529843.1:c.1224T>C | XP_011528145.1:p.Phe408= | |
| XM_011529845.1:c.762T>C | XP_011528147.1:p.Phe254= | |
| XR_937805.1:n.1584T>C | ||
| NM_001349956.1:c.1224T>C | NP_001336885.1:p.Phe408= | |
| NM_007194.4:c.1425T>C MANE Select | NP_009125.1:p.Phe475= | |
| XM_006724114.3:c.978T>C | XP_006724177.2:p.Phe326= | |
| XM_011529839.2:c.1584T>C | XP_011528141.1:p.Phe528= | |
| XM_011529840.3:c.1497T>C | XP_011528142.1:p.Phe499= | |
| XM_011529842.2:c.1254T>C | XP_011528144.1:p.Phe418= | |
| XM_011529845.2:c.762T>C | XP_011528147.1:p.Phe254= | |
| XM_017028560.1:c.1548T>C | XP_016884049.1:p.Phe516= | |
| XM_017028561.2:c.762T>C | XP_016884050.1:p.Phe254= | |
| XM_024452148.1:c.1455T>C | XP_024307916.1:p.Phe485= | |
| XM_024452149.1:c.1368T>C | XP_024307917.1:p.Phe456= | |
| XR_937805.2:n.1595T>C | ||
| NM_001005735.2:c.1554T>C | NP_001005735.1:p.Phe518= | |
| NM_001257387.2:c.762T>C | NP_001244316.1:p.Phe254= | |
| NM_001349956.2:c.1224T>C | NP_001336885.1:p.Phe408= |