Linked Data
ClinVar Variation Id:
1080925
ClinVar RCV Id:
RCV001396740
dbSNP Id:
rs759492466
ExAC:
4:6293087 C / T
gnomAD v2:
4-6293087-C-T
gnomAD v3:
4-6291360-C-T
gnomAD v4:
4-6291360-C-T
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291360C>T , CM000666.2:g.6291360C>T | GRCh38 |
| NC_000004.11:g.6293087C>T , CM000666.1:g.6293087C>T | GRCh37 |
| NC_000004.10:g.6343988C>T | NCBI36 |
| NG_011700.1:g.26511C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.624C>T | ENSP00000507852.1:p.Asn208= | |
| ENST00000683395.1:c.608+6C>T | ||
| ENST00000684087.1:c.624C>T | ENSP00000506978.1:p.Asn208= | |
| ENST00000684700.1:c.624C>T | ENSP00000507806.1:p.Asn208= | |
| ENST00000506362.2:c.375C>T | ENSP00000424103.2:p.Asn125= | |
| ENST00000673642.1:c.423C>T | ENSP00000501242.1:p.Asn141= | |
| ENST00000673991.1:c.624C>T | ENSP00000501033.1:p.Asn208= | |
| ENST00000226760.5:c.624C>T MANE Select | ENSP00000226760.1:p.Asn208= | |
| ENST00000503569.5:c.624C>T | ENSP00000423337.1:p.Asn208= | |
| ENST00000506362.1:c.221C>T | ||
| ENST00000507765.1:n.809C>T | ||
| NM_001145853.1:c.624C>T | NP_001139325.1:p.Asn208= | |
| NM_006005.3:c.624C>T MANE Select | NP_005996.2:p.Asn208= | |
| XM_017008586.1:c.633C>T | XP_016864075.1:p.Asn211= |