Linked Data
ClinVar Variation Id:
184472
dbSNP Id:
rs756978580
ExAC:
13:32972735 T / C
gnomAD v2:
13-32972735-T-C
gnomAD v3:
13-32398598-T-C
gnomAD v4:
13-32398598-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398598T>C , CM000675.2:g.32398598T>C | GRCh38 |
| NC_000013.10:g.32972735T>C , CM000675.1:g.32972735T>C | GRCh37 |
| NC_000013.9:g.31870735T>C | NCBI36 |
| NG_012772.3:g.88119T>C , LRG_293:g.88119T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*608T>C | ENSP00000434898.2:n.*608T>C | |
| ENST00000528762.2:c.*1452T>C | ENSP00000433168.2:n.*1452T>C | |
| ENST00000530893.7:c.9716T>C | ENSP00000499438.2:p.Phe3239Ser | |
| ENST00000665585.2:c.*1647T>C | ENSP00000499570.2:n.*1647T>C | |
| ENST00000700202.2:c.10034T>C | ENSP00000514856.2:p.Phe3345Ser | |
| ENST00000700202.1:c.2501T>C | ENSP00000514856.1:p.Phe834Ser | |
| ENST00000700203.1:n.2212T>C | ||
| ENST00000380152.8:c.10085T>C MANE Select | ENSP00000369497.3:p.Phe3362Ser | |
| ENST00000544455.6:c.10085T>C | ENSP00000439902.1:p.Phe3362Ser | |
| ENST00000614259.2:c.10093T>C | ENSP00000506251.1:n.10093T>C | |
| ENST00000680887.1:c.10085T>C | ENSP00000505508.1:p.Phe3362Ser | |
| ENST00000380152.7:c.10085T>C | ENSP00000369497.3:p.Phe3362Ser | |
| ENST00000544455.5:c.10085T>C | ENSP00000439902.1:p.Phe3362Ser | |
| NM_000059.3:c.10085T>C , LRG_293t1:c.10085T>C | NP_000050.2:p.Phe3362Ser | |
| XM_011535203.1:c.10085T>C | XP_011533505.1:p.Phe3362Ser | |
| XM_011535204.1:c.9989T>C | XP_011533506.1:p.Phe3330Ser | |
| NM_000059.4:c.10085T>C MANE Select | NP_000050.3:p.Phe3362Ser |