Linked Data
ClinVar Variation Id:
312220
ClinVar RCV Id:
RCV000318874
dbSNP Id:
rs201859220
gnomAD v2:
13-43148296-G-C
gnomAD v3:
13-42574160-G-C
gnomAD v4:
13-42574160-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42574160G>C , CM000675.2:g.42574160G>C | GRCh38 |
| NC_000013.10:g.43148296G>C , CM000675.1:g.43148296G>C | GRCh37 |
| NC_000013.9:g.42046296G>C | NCBI36 |
| NG_008990.1:g.16425G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398795.7:c.-144G>C MANE Select | ENSP00000381775.3:n.-144G>C | |
| ENST00000358545.6:c.-1+2422G>C | ENSP00000351347.2:n.-1+2422G>C | |
| ENST00000398795.6:c.-144G>C | ENSP00000381775.3:n.-144G>C | |
| ENST00000405262.6:c.-1+2422G>C | ENSP00000384042.2:n.-1+2422G>C | |
| NM_003701.3:c.-144G>C | NP_003692.1:n.-144G>C | |
| NM_033012.3:c.-1+2422G>C | NP_143026.1:n.-1+2422G>C | |
| NM_003701.4:c.-144G>C MANE Select | NP_003692.1:n.-144G>C | |
| NM_033012.4:c.-1+2422G>C | NP_143026.1:n.-1+2422G>C |