Linked Data
ClinVar Variation Id:
141046
ClinVar RCV Id:
RCV000129382
RCV000206734
RCV000212464
RCV000781308
RCV001356630
RCV002483259
RCV003398756
dbSNP Id:
rs370968992
ExAC:
22:29090058 A / T
gnomAD v2:
22-29090058-A-T
gnomAD v3:
22-28694070-A-T
gnomAD v4:
22-28694070-A-T
PubMed:
PMID:27616075
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28694070A>T , CM000684.2:g.28694070A>T | GRCh38 |
| NC_000022.10:g.29090058A>T , CM000684.1:g.29090058A>T | GRCh37 |
| NC_000022.9:g.27420058A>T | NCBI36 |
| NG_008150.1:g.52765T>A | |
| NG_008150.2:g.52797T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711048.1:c.*158T>A | ENSP00000518557.1:n.*158T>A | |
| ENST00000402731.6:c.1222T>A | ENSP00000384835.2:p.Phe408Ile | |
| ENST00000404276.6:c.1423T>A MANE Select | ENSP00000385747.1:p.Phe475Ile | |
| ENST00000425190.7:c.760T>A | ENSP00000390244.2:p.Phe254Ile | |
| ENST00000464581.6:c.763T>A | ENSP00000483777.2:p.Phe255Ile | |
| ENST00000648295.1:n.975T>A | ||
| ENST00000649563.1:c.760T>A | ENSP00000496928.1:p.Phe254Ile | |
| ENST00000650281.1:c.1423T>A | ENSP00000497000.1:p.Phe475Ile | |
| ENST00000328354.10:c.1423T>A | ENSP00000329178.6:p.Phe475Ile | |
| ENST00000348295.7:c.1336T>A | ENSP00000329012.5:p.Phe446Ile | |
| ENST00000382580.6:c.1552T>A | ENSP00000372023.2:p.Phe518Ile | |
| ENST00000402731.5:c.1336T>A | ENSP00000384835.1:p.Phe446Ile | |
| ENST00000403642.5:c.1150T>A | ENSP00000384919.1:p.Phe384Ile | |
| ENST00000404276.5:c.1423T>A | ENSP00000385747.1:p.Phe475Ile | |
| ENST00000405598.5:c.1423T>A | ENSP00000386087.1:p.Phe475Ile | |
| ENST00000416671.5:c.*913T>A | ENSP00000402225.1:n.*913T>A | |
| ENST00000417588.5:c.1332T>A | ENSP00000412901.1:n.1332T>A | |
| ENST00000433728.5:c.1361T>A | ENSP00000404400.1:n.1361T>A | |
| ENST00000434810.5:c.621T>A | ||
| ENST00000448511.5:c.1313T>A | ENSP00000404567.1:n.1313T>A | |
| ENST00000456369.5:c.264-4855T>A | ||
| NM_001005735.1:c.1552T>A | NP_001005735.1:p.Phe518Ile | |
| NM_001257387.1:c.760T>A | NP_001244316.1:p.Phe254Ile | |
| NM_007194.3:c.1423T>A | NP_009125.1:p.Phe475Ile | |
| NM_145862.2:c.1336T>A | NP_665861.1:p.Phe446Ile | |
| XM_006724114.2:c.943T>A | XP_006724177.1:p.Phe315Ile | |
| XM_006724116.2:c.880T>A | XP_006724179.2:p.Phe294Ile | |
| XM_011529839.1:c.1582T>A | XP_011528141.1:p.Phe528Ile | |
| XM_011529840.1:c.1495T>A | XP_011528142.1:p.Phe499Ile | |
| XM_011529841.1:c.1351T>A | XP_011528143.1:p.Phe451Ile | |
| XM_011529842.1:c.1252T>A | XP_011528144.1:p.Phe418Ile | |
| XM_011529843.1:c.1222T>A | XP_011528145.1:p.Phe408Ile | |
| XM_011529845.1:c.760T>A | XP_011528147.1:p.Phe254Ile | |
| XR_937805.1:n.1582T>A | ||
| NM_001349956.1:c.1222T>A | NP_001336885.1:p.Phe408Ile | |
| NM_007194.4:c.1423T>A MANE Select | NP_009125.1:p.Phe475Ile | |
| XM_006724114.3:c.976T>A | XP_006724177.2:p.Phe326Ile | |
| XM_011529839.2:c.1582T>A | XP_011528141.1:p.Phe528Ile | |
| XM_011529840.3:c.1495T>A | XP_011528142.1:p.Phe499Ile | |
| XM_011529842.2:c.1252T>A | XP_011528144.1:p.Phe418Ile | |
| XM_011529845.2:c.760T>A | XP_011528147.1:p.Phe254Ile | |
| XM_017028560.1:c.1546T>A | XP_016884049.1:p.Phe516Ile | |
| XM_017028561.2:c.760T>A | XP_016884050.1:p.Phe254Ile | |
| XM_024452148.1:c.1453T>A | XP_024307916.1:p.Phe485Ile | |
| XM_024452149.1:c.1366T>A | XP_024307917.1:p.Phe456Ile | |
| XR_937805.2:n.1593T>A | ||
| NM_001005735.2:c.1552T>A | NP_001005735.1:p.Phe518Ile | |
| NM_001257387.2:c.760T>A | NP_001244316.1:p.Phe254Ile | |
| NM_001349956.2:c.1222T>A | NP_001336885.1:p.Phe408Ile |