Linked Data
ClinVar Variation Id:
52753
dbSNP Id:
rs80359167
ExAC:
13:32954049 C / T
gnomAD v2:
13-32954049-C-T
gnomAD v3:
13-32379912-C-T
gnomAD v4:
13-32379912-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379912C>T , CM000675.2:g.32379912C>T | GRCh38 |
| NC_000013.10:g.32954049C>T , CM000675.1:g.32954049C>T | GRCh37 |
| NC_000013.9:g.31852049C>T | NCBI36 |
| NG_012772.3:g.69433C>T , LRG_293:g.69433C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9116C>T | ENSP00000434898.2:p.Pro3039Leu | |
| ENST00000528762.2:c.*483C>T | ENSP00000433168.2:n.*483C>T | |
| ENST00000530893.7:c.8747C>T | ENSP00000499438.2:p.Pro2916Leu | |
| ENST00000665585.2:c.*678C>T | ENSP00000499570.2:n.*678C>T | |
| ENST00000666593.2:c.9116C>T | ENSP00000499256.2:p.Pro3039Leu | |
| ENST00000700202.2:c.9065C>T | ENSP00000514856.2:p.Pro3022Leu | |
| ENST00000700202.1:c.1532C>T | ENSP00000514856.1:p.Pro511Leu | |
| ENST00000700203.1:n.1243C>T | ||
| ENST00000380152.8:c.9116C>T MANE Select | ENSP00000369497.3:p.Pro3039Leu | |
| ENST00000544455.6:c.9116C>T | ENSP00000439902.1:p.Pro3039Leu | |
| ENST00000614259.2:c.9124C>T | ENSP00000506251.1:n.9124C>T | |
| ENST00000665585.1:c.1994C>T | ||
| ENST00000680887.1:c.9116C>T | ENSP00000505508.1:p.Pro3039Leu | |
| ENST00000380152.7:c.9116C>T | ENSP00000369497.3:p.Pro3039Leu | |
| ENST00000470094.1:c.73C>T | ||
| ENST00000544455.5:c.9116C>T | ENSP00000439902.1:p.Pro3039Leu | |
| NM_000059.3:c.9116C>T , LRG_293t1:c.9116C>T | NP_000050.2:p.Pro3039Leu | |
| XM_011535203.1:c.9116C>T | XP_011533505.1:p.Pro3039Leu | |
| XM_011535204.1:c.9020C>T | XP_011533506.1:p.Pro3007Leu | |
| NM_000059.4:c.9116C>T MANE Select | NP_000050.3:p.Pro3039Leu |