Linked Data
ClinVar Variation Id:
5603
ClinVar RCV Id:
RCV000005953
RCV000115994
RCV000197718
RCV000210180
RCV000212459
RCV000388223
RCV000515286
RCV000586482
RCV000778654
RCV001449813
RCV001354412
RCV003492287
RCV003333691
RCV004532295
dbSNP Id:
rs137853011
ExAC:
22:29091207 G / A
gnomAD v2:
22-29091207-G-A
gnomAD v3:
22-28695219-G-A
gnomAD v4:
22-28695219-G-A
COSMIC:
COSM2935967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695219G>A , CM000684.2:g.28695219G>A | GRCh38 |
| NC_000022.10:g.29091207G>A , CM000684.1:g.29091207G>A | GRCh37 |
| NC_000022.9:g.27421207G>A | NCBI36 |
| NG_008150.1:g.51616C>T | |
| NG_008150.2:g.51648C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*18C>T | ENSP00000518557.1:n.*18C>T | |
| ENST00000402731.6:c.1082C>T | ENSP00000384835.2:p.Ser361Phe | |
| ENST00000404276.6:c.1283C>T MANE Select | ENSP00000385747.1:p.Ser428Phe | |
| ENST00000425190.7:c.620C>T | ENSP00000390244.2:p.Ser207Phe | |
| ENST00000464581.6:c.623C>T | ENSP00000483777.2:p.Ser208Phe | |
| ENST00000648295.1:n.835C>T | ||
| ENST00000649563.1:c.620C>T | ENSP00000496928.1:p.Ser207Phe | |
| ENST00000650281.1:c.1283C>T | ENSP00000497000.1:p.Ser428Phe | |
| ENST00000328354.10:c.1283C>T | ENSP00000329178.6:p.Ser428Phe | |
| ENST00000348295.7:c.1196C>T | ENSP00000329012.5:p.Ser399Phe | |
| ENST00000382580.6:c.1412C>T | ENSP00000372023.2:p.Ser471Phe | |
| ENST00000402731.5:c.1196C>T | ENSP00000384835.1:p.Ser399Phe | |
| ENST00000403642.5:c.1010C>T | ENSP00000384919.1:p.Ser337Phe | |
| ENST00000404276.5:c.1283C>T | ENSP00000385747.1:p.Ser428Phe | |
| ENST00000405598.5:c.1283C>T | ENSP00000386087.1:p.Ser428Phe | |
| ENST00000416671.5:c.*773C>T | ENSP00000402225.1:n.*773C>T | |
| ENST00000417588.5:c.1192C>T | ENSP00000412901.1:n.1192C>T | |
| ENST00000433728.5:c.1221C>T | ENSP00000404400.1:n.1221C>T | |
| ENST00000434810.5:c.491-10C>T | ||
| ENST00000448511.5:c.1173C>T | ENSP00000404567.1:n.1173C>T | |
| ENST00000456369.5:c.263+4619C>T | ||
| NM_001005735.1:c.1412C>T | NP_001005735.1:p.Ser471Phe | |
| NM_001257387.1:c.620C>T | NP_001244316.1:p.Ser207Phe | |
| NM_007194.3:c.1283C>T | NP_009125.1:p.Ser428Phe | |
| NM_145862.2:c.1196C>T | NP_665861.1:p.Ser399Phe | |
| XM_006724114.2:c.803C>T | XP_006724177.1:p.Ser268Phe | |
| XM_006724116.2:c.740C>T | XP_006724179.2:p.Ser247Phe | |
| XM_011529839.1:c.1442C>T | XP_011528141.1:p.Ser481Phe | |
| XM_011529840.1:c.1355C>T | XP_011528142.1:p.Ser452Phe | |
| XM_011529841.1:c.1211C>T | XP_011528143.1:p.Ser404Phe | |
| XM_011529842.1:c.1112C>T | XP_011528144.1:p.Ser371Phe | |
| XM_011529843.1:c.1082C>T | XP_011528145.1:p.Ser361Phe | |
| XM_011529845.1:c.620C>T | XP_011528147.1:p.Ser207Phe | |
| XR_937805.1:n.1442C>T | ||
| NM_001349956.1:c.1082C>T | NP_001336885.1:p.Ser361Phe | |
| NM_007194.4:c.1283C>T MANE Select | NP_009125.1:p.Ser428Phe | |
| XM_006724114.3:c.836C>T | XP_006724177.2:p.Ser279Phe | |
| XM_011529839.2:c.1442C>T | XP_011528141.1:p.Ser481Phe | |
| XM_011529840.3:c.1355C>T | XP_011528142.1:p.Ser452Phe | |
| XM_011529842.2:c.1112C>T | XP_011528144.1:p.Ser371Phe | |
| XM_011529845.2:c.620C>T | XP_011528147.1:p.Ser207Phe | |
| XM_017028560.1:c.1406C>T | XP_016884049.1:p.Ser469Phe | |
| XM_017028561.2:c.620C>T | XP_016884050.1:p.Ser207Phe | |
| XM_024452148.1:c.1313C>T | XP_024307916.1:p.Ser438Phe | |
| XM_024452149.1:c.1226C>T | XP_024307917.1:p.Ser409Phe | |
| XR_937805.2:n.1453C>T | ||
| NM_001005735.2:c.1412C>T | NP_001005735.1:p.Ser471Phe | |
| NM_001257387.2:c.620C>T | NP_001244316.1:p.Ser207Phe | |
| NM_001349956.2:c.1082C>T | NP_001336885.1:p.Ser361Phe |