Linked Data
ClinVar Variation Id:
52258
ClinVar RCV Id:
RCV000045131
RCV000113699
RCV000222667
RCV000588738
RCV002477151
RCV003460605
RCV003493424
dbSNP Id:
rs80358934
ExAC:
13:32929045 C / T
gnomAD v2:
13-32929045-C-T
gnomAD v4:
13-32354908-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32354908C>T , CM000675.2:g.32354908C>T | GRCh38 |
| NC_000013.10:g.32929045C>T , CM000675.1:g.32929045C>T | GRCh37 |
| NC_000013.9:g.31827045C>T | NCBI36 |
| NG_012772.3:g.44429C>T , LRG_293:g.44429C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.7055C>T | ENSP00000434898.2:p.Pro2352Leu | |
| ENST00000528762.2:c.7055C>T | ENSP00000433168.2:p.Pro2352Leu | |
| ENST00000530893.7:c.6686C>T | ENSP00000499438.2:p.Pro2229Leu | |
| ENST00000665585.2:c.7055C>T | ENSP00000499570.2:p.Pro2352Leu | |
| ENST00000666593.2:c.7055C>T | ENSP00000499256.2:p.Pro2352Leu | |
| ENST00000700202.2:c.7055C>T | ENSP00000514856.2:p.Pro2352Leu | |
| ENST00000380152.8:c.7055C>T MANE Select | ENSP00000369497.3:p.Pro2352Leu | |
| ENST00000544455.6:c.7055C>T | ENSP00000439902.1:p.Pro2352Leu | |
| ENST00000614259.2:c.7055C>T | ENSP00000506251.1:p.Pro2352Leu | |
| ENST00000680887.1:c.7055C>T | ENSP00000505508.1:p.Pro2352Leu | |
| ENST00000380152.7:c.7055C>T | ENSP00000369497.3:p.Pro2352Leu | |
| ENST00000544455.5:c.7055C>T | ENSP00000439902.1:p.Pro2352Leu | |
| ENST00000614259.1:n.7055C>T | ||
| NM_000059.3:c.7055C>T , LRG_293t1:c.7055C>T | NP_000050.2:p.Pro2352Leu | |
| XM_011535203.1:c.7055C>T | XP_011533505.1:p.Pro2352Leu | |
| XM_011535204.1:c.6959C>T | XP_011533506.1:p.Pro2320Leu | |
| XM_011535205.1:c.7055C>T | XP_011533507.1:p.Pro2352Leu | |
| NM_000059.4:c.7055C>T MANE Select | NP_000050.3:p.Pro2352Leu |