Linked Data
ClinVar Variation Id:
140938
ClinVar RCV Id:
RCV000129213
RCV000206213
RCV000212468
RCV000590757
RCV001798435
RCV002478384
RCV004528849
dbSNP Id:
rs564605612
ExAC:
22:29090030 G / A
gnomAD v2:
22-29090030-G-A
gnomAD v3:
22-28694042-G-A
gnomAD v4:
22-28694042-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28694042G>A , CM000684.2:g.28694042G>A | GRCh38 |
| NC_000022.10:g.29090030G>A , CM000684.1:g.29090030G>A | GRCh37 |
| NC_000022.9:g.27420030G>A | NCBI36 |
| NG_008150.1:g.52793C>T | |
| NG_008150.2:g.52825C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*186C>T | ENSP00000518557.1:n.*186C>T | |
| ENST00000402731.6:c.1250C>T | ENSP00000384835.2:p.Pro417Leu | |
| ENST00000404276.6:c.1451C>T MANE Select | ENSP00000385747.1:p.Pro484Leu | |
| ENST00000425190.7:c.788C>T | ENSP00000390244.2:p.Pro263Leu | |
| ENST00000464581.6:c.791C>T | ENSP00000483777.2:p.Pro264Leu | |
| ENST00000648295.1:n.1003C>T | ||
| ENST00000649563.1:c.788C>T | ENSP00000496928.1:p.Pro263Leu | |
| ENST00000650281.1:c.1451C>T | ENSP00000497000.1:p.Pro484Leu | |
| ENST00000328354.10:c.1451C>T | ENSP00000329178.6:p.Pro484Leu | |
| ENST00000348295.7:c.1364C>T | ENSP00000329012.5:p.Pro455Leu | |
| ENST00000382580.6:c.1580C>T | ENSP00000372023.2:p.Pro527Leu | |
| ENST00000402731.5:c.1364C>T | ENSP00000384835.1:p.Pro455Leu | |
| ENST00000403642.5:c.1178C>T | ENSP00000384919.1:p.Pro393Leu | |
| ENST00000404276.5:c.1451C>T | ENSP00000385747.1:p.Pro484Leu | |
| ENST00000405598.5:c.1451C>T | ENSP00000386087.1:p.Pro484Leu | |
| ENST00000416671.5:c.*941C>T | ENSP00000402225.1:n.*941C>T | |
| ENST00000417588.5:c.1360C>T | ENSP00000412901.1:n.1360C>T | |
| ENST00000433728.5:c.1389C>T | ENSP00000404400.1:n.1389C>T | |
| ENST00000434810.5:c.649C>T | ||
| ENST00000448511.5:c.1341C>T | ENSP00000404567.1:n.1341C>T | |
| ENST00000456369.5:c.264-4827C>T | ||
| NM_001005735.1:c.1580C>T | NP_001005735.1:p.Pro527Leu | |
| NM_001257387.1:c.788C>T | NP_001244316.1:p.Pro263Leu | |
| NM_007194.3:c.1451C>T | NP_009125.1:p.Pro484Leu | |
| NM_145862.2:c.1364C>T | NP_665861.1:p.Pro455Leu | |
| XM_006724114.2:c.971C>T | XP_006724177.1:p.Pro324Leu | |
| XM_006724116.2:c.908C>T | XP_006724179.2:p.Pro303Leu | |
| XM_011529839.1:c.1610C>T | XP_011528141.1:p.Pro537Leu | |
| XM_011529840.1:c.1523C>T | XP_011528142.1:p.Pro508Leu | |
| XM_011529841.1:c.1379C>T | XP_011528143.1:p.Pro460Leu | |
| XM_011529842.1:c.1280C>T | XP_011528144.1:p.Pro427Leu | |
| XM_011529843.1:c.1250C>T | XP_011528145.1:p.Pro417Leu | |
| XM_011529845.1:c.788C>T | XP_011528147.1:p.Pro263Leu | |
| XR_937805.1:n.1610C>T | ||
| NM_001349956.1:c.1250C>T | NP_001336885.1:p.Pro417Leu | |
| NM_007194.4:c.1451C>T MANE Select | NP_009125.1:p.Pro484Leu | |
| XM_006724114.3:c.1004C>T | XP_006724177.2:p.Pro335Leu | |
| XM_011529839.2:c.1610C>T | XP_011528141.1:p.Pro537Leu | |
| XM_011529840.3:c.1523C>T | XP_011528142.1:p.Pro508Leu | |
| XM_011529842.2:c.1280C>T | XP_011528144.1:p.Pro427Leu | |
| XM_011529845.2:c.788C>T | XP_011528147.1:p.Pro263Leu | |
| XM_017028560.1:c.1574C>T | XP_016884049.1:p.Pro525Leu | |
| XM_017028561.2:c.788C>T | XP_016884050.1:p.Pro263Leu | |
| XM_024452148.1:c.1481C>T | XP_024307916.1:p.Pro494Leu | |
| XM_024452149.1:c.1394C>T | XP_024307917.1:p.Pro465Leu | |
| XR_937805.2:n.1621C>T | ||
| NM_001005735.2:c.1580C>T | NP_001005735.1:p.Pro527Leu | |
| NM_001257387.2:c.788C>T | NP_001244316.1:p.Pro263Leu | |
| NM_001349956.2:c.1250C>T | NP_001336885.1:p.Pro417Leu |