Linked Data
ClinVar Variation Id:
193257
dbSNP Id:
rs2296533
ExAC:
13:43148565 T / C
gnomAD v2:
13-43148565-T-C
gnomAD v3:
13-42574429-T-C
gnomAD v4:
13-42574429-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42574429T>C , CM000675.2:g.42574429T>C | GRCh38 |
| NC_000013.10:g.43148565T>C , CM000675.1:g.43148565T>C | GRCh37 |
| NC_000013.9:g.42046565T>C | NCBI36 |
| NG_008990.1:g.16694T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398795.7:c.126T>C MANE Select | ENSP00000381775.3:p.Pro42= | |
| ENST00000239849.8:c.-4-12T>C | ENSP00000239849.7:n.-4-12T>C | |
| ENST00000358545.6:c.-1+2691T>C | ENSP00000351347.2:n.-1+2691T>C | |
| ENST00000398795.6:c.126T>C | ENSP00000381775.3:p.Pro42= | |
| ENST00000405262.6:c.-1+2691T>C | ENSP00000384042.2:n.-1+2691T>C | |
| ENST00000544862.5:c.-54-40T>C | ENSP00000444913.1:n.-54-40T>C | |
| NM_003701.3:c.126T>C | NP_003692.1:p.Pro42= | |
| NM_033012.3:c.-1+2691T>C | NP_143026.1:n.-1+2691T>C | |
| NM_003701.4:c.126T>C MANE Select | NP_003692.1:p.Pro42= | |
| NM_033012.4:c.-1+2691T>C | NP_143026.1:n.-1+2691T>C |