Linked Data
ClinVar Variation Id:
141136
ClinVar RCV Id:
RCV000129508
RCV000206654
RCV000589481
RCV001175352
RCV001357703
RCV003483495
RCV003493452
dbSNP Id:
rs373073383
ExAC:
22:29091782 G / A
gnomAD v2:
22-29091782-G-A
gnomAD v3:
22-28695794-G-A
gnomAD v4:
22-28695794-G-A
COSMIC:
COSM1535330
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695794G>A , CM000684.2:g.28695794G>A | GRCh38 |
| NC_000022.10:g.29091782G>A , CM000684.1:g.29091782G>A | GRCh37 |
| NC_000022.9:g.27421782G>A | NCBI36 |
| NG_008150.1:g.51041C>T | |
| NG_008150.2:g.51073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-552C>T | ENSP00000518557.1:n.1009-552C>T | |
| ENST00000402731.6:c.974C>T | ENSP00000384835.2:p.Ala325Val | |
| ENST00000404276.6:c.1175C>T MANE Select | ENSP00000385747.1:p.Ala392Val | |
| ENST00000425190.7:c.512C>T | ENSP00000390244.2:p.Ala171Val | |
| ENST00000464581.6:c.515C>T | ENSP00000483777.2:p.Ala172Val | |
| ENST00000648295.1:n.727C>T | ||
| ENST00000649563.1:c.512C>T | ENSP00000496928.1:p.Ala171Val | |
| ENST00000650281.1:c.1175C>T | ENSP00000497000.1:p.Ala392Val | |
| ENST00000328354.10:c.1175C>T | ENSP00000329178.6:p.Ala392Val | |
| ENST00000348295.7:c.1088C>T | ENSP00000329012.5:p.Ala363Val | |
| ENST00000382580.6:c.1304C>T | ENSP00000372023.2:p.Ala435Val | |
| ENST00000402731.5:c.1088C>T | ENSP00000384835.1:p.Ala363Val | |
| ENST00000403642.5:c.902C>T | ENSP00000384919.1:p.Ala301Val | |
| ENST00000404276.5:c.1175C>T | ENSP00000385747.1:p.Ala392Val | |
| ENST00000405598.5:c.1175C>T | ENSP00000386087.1:p.Ala392Val | |
| ENST00000416671.5:c.*665C>T | ENSP00000402225.1:n.*665C>T | |
| ENST00000417588.5:c.1084C>T | ENSP00000412901.1:n.1084C>T | |
| ENST00000433728.5:c.1113C>T | ENSP00000404400.1:n.1113C>T | |
| ENST00000434810.5:c.406C>T | ||
| ENST00000448511.5:c.1065C>T | ENSP00000404567.1:n.1065C>T | |
| ENST00000456369.5:c.263+4044C>T | ||
| NM_001005735.1:c.1304C>T | NP_001005735.1:p.Ala435Val | |
| NM_001257387.1:c.512C>T | NP_001244316.1:p.Ala171Val | |
| NM_007194.3:c.1175C>T | NP_009125.1:p.Ala392Val | |
| NM_145862.2:c.1088C>T | NP_665861.1:p.Ala363Val | |
| XM_006724114.2:c.695C>T | XP_006724177.1:p.Ala232Val | |
| XM_006724116.2:c.632C>T | XP_006724179.2:p.Ala211Val | |
| XM_011529839.1:c.1334C>T | XP_011528141.1:p.Ala445Val | |
| XM_011529840.1:c.1247C>T | XP_011528142.1:p.Ala416Val | |
| XM_011529841.1:c.1103C>T | XP_011528143.1:p.Ala368Val | |
| XM_011529842.1:c.1004C>T | XP_011528144.1:p.Ala335Val | |
| XM_011529843.1:c.974C>T | XP_011528145.1:p.Ala325Val | |
| XM_011529845.1:c.512C>T | XP_011528147.1:p.Ala171Val | |
| XR_937805.1:n.1334C>T | ||
| XR_937806.1:n.1242C>T | ||
| NM_001349956.1:c.974C>T | NP_001336885.1:p.Ala325Val | |
| NM_007194.4:c.1175C>T MANE Select | NP_009125.1:p.Ala392Val | |
| XM_006724114.3:c.728C>T | XP_006724177.2:p.Ala243Val | |
| XM_011529839.2:c.1334C>T | XP_011528141.1:p.Ala445Val | |
| XM_011529840.3:c.1247C>T | XP_011528142.1:p.Ala416Val | |
| XM_011529842.2:c.1004C>T | XP_011528144.1:p.Ala335Val | |
| XM_011529845.2:c.512C>T | XP_011528147.1:p.Ala171Val | |
| XM_017028560.1:c.1298C>T | XP_016884049.1:p.Ala433Val | |
| XM_017028561.2:c.512C>T | XP_016884050.1:p.Ala171Val | |
| XM_024452148.1:c.1205C>T | XP_024307916.1:p.Ala402Val | |
| XM_024452149.1:c.1118C>T | XP_024307917.1:p.Ala373Val | |
| XR_937805.2:n.1345C>T | ||
| XR_937806.2:n.1258C>T | ||
| NM_001005735.2:c.1304C>T | NP_001005735.1:p.Ala435Val | |
| NM_001257387.2:c.512C>T | NP_001244316.1:p.Ala171Val | |
| NM_001349956.2:c.974C>T | NP_001336885.1:p.Ala325Val |