Linked Data
ClinVar Variation Id:
38250
dbSNP Id:
rs28897760
ExAC:
13:32971114 C / A
gnomAD v2:
13-32971114-C-A
gnomAD v3:
13-32396977-C-A
gnomAD v4:
13-32396977-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32396977C>A , CM000675.2:g.32396977C>A | GRCh38 |
| NC_000013.10:g.32971114C>A , CM000675.1:g.32971114C>A | GRCh37 |
| NC_000013.9:g.31869114C>A | NCBI36 |
| NG_012772.3:g.86498C>A , LRG_293:g.86498C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*104C>A | ENSP00000434898.2:n.*104C>A | |
| ENST00000528762.2:c.*948C>A | ENSP00000433168.2:n.*948C>A | |
| ENST00000530893.7:c.9212C>A | ENSP00000499438.2:p.Pro3071Gln | |
| ENST00000665585.2:c.*1143C>A | ENSP00000499570.2:n.*1143C>A | |
| ENST00000700202.2:c.9530C>A | ENSP00000514856.2:p.Pro3177Gln | |
| ENST00000700202.1:c.1997C>A | ENSP00000514856.1:p.Pro666Gln | |
| ENST00000700203.1:n.1708C>A | ||
| ENST00000380152.8:c.9581C>A MANE Select | ENSP00000369497.3:p.Pro3194Gln | |
| ENST00000544455.6:c.9581C>A | ENSP00000439902.1:p.Pro3194Gln | |
| ENST00000614259.2:c.9589C>A | ENSP00000506251.1:n.9589C>A | |
| ENST00000665585.1:c.2459C>A | ||
| ENST00000680887.1:c.9581C>A | ENSP00000505508.1:p.Pro3194Gln | |
| ENST00000380152.7:c.9581C>A | ENSP00000369497.3:p.Pro3194Gln | |
| ENST00000470094.1:c.664C>A | ||
| ENST00000533776.1:n.169C>A | ||
| ENST00000544455.5:c.9581C>A | ENSP00000439902.1:p.Pro3194Gln | |
| NM_000059.3:c.9581C>A , LRG_293t1:c.9581C>A | NP_000050.2:p.Pro3194Gln | |
| XM_011535203.1:c.9581C>A | XP_011533505.1:p.Pro3194Gln | |
| XM_011535204.1:c.9485C>A | XP_011533506.1:p.Pro3162Gln | |
| NM_000059.4:c.9581C>A MANE Select | NP_000050.3:p.Pro3194Gln |