Linked Data
ClinVar Variation Id:
823524
dbSNP Id:
rs56121817
gnomAD v2:
13-32972525-C-A
gnomAD v4:
13-32398388-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398388C>A , CM000675.2:g.32398388C>A | GRCh38 |
| NC_000013.10:g.32972525C>A , CM000675.1:g.32972525C>A | GRCh37 |
| NC_000013.9:g.31870525C>A | NCBI36 |
| NG_012772.3:g.87909C>A , LRG_293:g.87909C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*398C>A | ENSP00000434898.2:n.*398C>A | |
| ENST00000528762.2:c.*1242C>A | ENSP00000433168.2:n.*1242C>A | |
| ENST00000530893.7:c.9506C>A | ENSP00000499438.2:p.Pro3169Gln | |
| ENST00000665585.2:c.*1437C>A | ENSP00000499570.2:n.*1437C>A | |
| ENST00000700202.2:c.9824C>A | ENSP00000514856.2:p.Pro3275Gln | |
| ENST00000700202.1:c.2291C>A | ENSP00000514856.1:p.Pro764Gln | |
| ENST00000700203.1:n.2002C>A | ||
| ENST00000380152.8:c.9875C>A MANE Select | ENSP00000369497.3:p.Pro3292Gln | |
| ENST00000544455.6:c.9875C>A | ENSP00000439902.1:p.Pro3292Gln | |
| ENST00000614259.2:c.9883C>A | ENSP00000506251.1:n.9883C>A | |
| ENST00000680887.1:c.9875C>A | ENSP00000505508.1:p.Pro3292Gln | |
| ENST00000380152.7:c.9875C>A | ENSP00000369497.3:p.Pro3292Gln | |
| ENST00000533776.1:n.463C>A | ||
| ENST00000544455.5:c.9875C>A | ENSP00000439902.1:p.Pro3292Gln | |
| NM_000059.3:c.9875C>A , LRG_293t1:c.9875C>A | NP_000050.2:p.Pro3292Gln | |
| XM_011535203.1:c.9875C>A | XP_011533505.1:p.Pro3292Gln | |
| XM_011535204.1:c.9779C>A | XP_011533506.1:p.Pro3260Gln | |
| NM_000059.4:c.9875C>A MANE Select | NP_000050.3:p.Pro3292Gln |