Linked Data
ClinVar Variation Id:
38262
ClinVar RCV Id:
RCV000031845
RCV000045892
RCV000166251
RCV000167844
RCV000587179
RCV000735633
RCV001353590
RCV004532473
dbSNP Id:
rs80359241
ExAC:
13:32972378 C / T
gnomAD v2:
13-32972378-C-T
gnomAD v3:
13-32398241-C-T
gnomAD v4:
13-32398241-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398241C>T , CM000675.2:g.32398241C>T | GRCh38 |
| NC_000013.10:g.32972378C>T , CM000675.1:g.32972378C>T | GRCh37 |
| NC_000013.9:g.31870378C>T | NCBI36 |
| NG_012772.3:g.87762C>T , LRG_293:g.87762C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*251C>T | ENSP00000434898.2:n.*251C>T | |
| ENST00000528762.2:c.*1095C>T | ENSP00000433168.2:n.*1095C>T | |
| ENST00000530893.7:c.9359C>T | ENSP00000499438.2:p.Pro3120Leu | |
| ENST00000665585.2:c.*1290C>T | ENSP00000499570.2:n.*1290C>T | |
| ENST00000700202.2:c.9677C>T | ENSP00000514856.2:p.Pro3226Leu | |
| ENST00000700202.1:c.2144C>T | ENSP00000514856.1:p.Pro715Leu | |
| ENST00000700203.1:n.1855C>T | ||
| ENST00000380152.8:c.9728C>T MANE Select | ENSP00000369497.3:p.Pro3243Leu | |
| ENST00000544455.6:c.9728C>T | ENSP00000439902.1:p.Pro3243Leu | |
| ENST00000614259.2:c.9736C>T | ENSP00000506251.1:n.9736C>T | |
| ENST00000680887.1:c.9728C>T | ENSP00000505508.1:p.Pro3243Leu | |
| ENST00000380152.7:c.9728C>T | ENSP00000369497.3:p.Pro3243Leu | |
| ENST00000470094.1:c.811C>T | ||
| ENST00000533776.1:n.316C>T | ||
| ENST00000544455.5:c.9728C>T | ENSP00000439902.1:p.Pro3243Leu | |
| NM_000059.3:c.9728C>T , LRG_293t1:c.9728C>T | NP_000050.2:p.Pro3243Leu | |
| XM_011535203.1:c.9728C>T | XP_011533505.1:p.Pro3243Leu | |
| XM_011535204.1:c.9632C>T | XP_011533506.1:p.Pro3211Leu | |
| NM_000059.4:c.9728C>T MANE Select | NP_000050.3:p.Pro3243Leu |