Linked Data
ClinVar Variation Id:
193186
ClinVar RCV Id:
RCV000173232
dbSNP Id:
rs61752839
ExAC:
14:21899347 T / C
gnomAD v2:
14-21899347-T-C
gnomAD v3:
14-21431188-T-C
gnomAD v4:
14-21431188-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21431188T>C , CM000676.2:g.21431188T>C | GRCh38 |
| NC_000014.8:g.21899347T>C , CM000676.1:g.21899347T>C | GRCh37 |
| NC_000014.7:g.20969187T>C | NCBI36 |
| NG_021249.1:g.11111A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.6+623A>G | ENSP00000406288.3:n.6+623A>G | |
| ENST00000553651.2:n.797A>G | ||
| ENST00000555962.6:c.-111+623A>G | ENSP00000495174.1:n.-111+623A>G | |
| ENST00000557364.6:c.456A>G | ENSP00000451601.1:p.Pro152= | |
| ENST00000642518.1:c.6+623A>G | ENSP00000496722.1:n.6+623A>G | |
| ENST00000643048.1:n.751A>G | ||
| ENST00000643469.1:c.456A>G | ENSP00000495070.1:p.Pro152= | |
| ENST00000645140.1:c.368A>G | ||
| ENST00000645929.1:c.6+623A>G | ENSP00000494402.1:n.6+623A>G | |
| ENST00000646063.1:c.543A>G | ENSP00000496565.1:p.Pro181= | |
| ENST00000646340.1:c.462A>G | ENSP00000496730.1:p.Pro154= | |
| ENST00000646647.2:c.456A>G MANE Select | ENSP00000495240.1:p.Pro152= | |
| ENST00000399982.6:c.456A>G | ENSP00000382863.2:p.Pro152= | |
| ENST00000430710.7:c.6+623A>G | ENSP00000406288.3:n.6+623A>G | |
| ENST00000553283.1:c.97-1853A>G | ENSP00000450860.1:n.97-1853A>G | |
| ENST00000553622.5:c.381A>G | ENSP00000450957.1:p.Pro127= | |
| ENST00000555962.5:n.150+623A>G | ||
| ENST00000557364.5:c.456A>G | ENSP00000451601.1:p.Pro152= | |
| NM_001170629.1:c.456A>G | NP_001164100.1:p.Pro152= | |
| NM_020920.3:c.6+623A>G | NP_065971.2:n.6+623A>G | |
| NM_001170629.2:c.456A>G MANE Select | NP_001164100.1:p.Pro152= | |
| NM_020920.4:c.6+623A>G | NP_065971.2:n.6+623A>G |