Linked Data
ClinVar Variation Id:
96885
dbSNP Id:
rs431825377
gnomAD v2:
13-32971180-T-C
gnomAD v3:
13-32397043-T-C
gnomAD v4:
13-32397043-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32397043T>C , CM000675.2:g.32397043T>C | GRCh38 |
| NC_000013.10:g.32971180T>C , CM000675.1:g.32971180T>C | GRCh37 |
| NC_000013.9:g.31869180T>C | NCBI36 |
| NG_012772.3:g.86564T>C , LRG_293:g.86564T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*170T>C | ENSP00000434898.2:n.*170T>C | |
| ENST00000528762.2:c.*1014T>C | ENSP00000433168.2:n.*1014T>C | |
| ENST00000530893.7:c.9278T>C | ENSP00000499438.2:p.Leu3093Pro | |
| ENST00000665585.2:c.*1209T>C | ENSP00000499570.2:n.*1209T>C | |
| ENST00000700202.2:c.9596T>C | ENSP00000514856.2:p.Leu3199Pro | |
| ENST00000700202.1:c.2063T>C | ENSP00000514856.1:p.Leu688Pro | |
| ENST00000700203.1:n.1774T>C | ||
| ENST00000380152.8:c.9647T>C MANE Select | ENSP00000369497.3:p.Leu3216Pro | |
| ENST00000544455.6:c.9647T>C | ENSP00000439902.1:p.Leu3216Pro | |
| ENST00000614259.2:c.9655T>C | ENSP00000506251.1:n.9655T>C | |
| ENST00000665585.1:c.2525T>C | ||
| ENST00000680887.1:c.9647T>C | ENSP00000505508.1:p.Leu3216Pro | |
| ENST00000380152.7:c.9647T>C | ENSP00000369497.3:p.Leu3216Pro | |
| ENST00000470094.1:c.730T>C | ||
| ENST00000533776.1:n.235T>C | ||
| ENST00000544455.5:c.9647T>C | ENSP00000439902.1:p.Leu3216Pro | |
| NM_000059.3:c.9647T>C , LRG_293t1:c.9647T>C | NP_000050.2:p.Leu3216Pro | |
| XM_011535203.1:c.9647T>C | XP_011533505.1:p.Leu3216Pro | |
| XM_011535204.1:c.9551T>C | XP_011533506.1:p.Leu3184Pro | |
| NM_000059.4:c.9647T>C MANE Select | NP_000050.3:p.Leu3216Pro |