Linked Data
ClinVar Variation Id:
1038294
ClinVar RCV Id:
RCV001341582
dbSNP Id:
rs1420666038
gnomAD v2:
11-2906691-G-A
gnomAD v3:
11-2885461-G-A
gnomAD v4:
11-2885461-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2885461G>A , CM000673.2:g.2885461G>A | GRCh38 |
| NC_000011.9:g.2906691G>A , CM000673.1:g.2906691G>A | GRCh37 |
| NC_000011.8:g.2863267G>A | NCBI36 |
| NG_008022.1:g.5305C>T , LRG_533:g.5305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681969.1:n.142+173C>T | ||
| ENST00000380725.2:c.-5C>T | ENSP00000370101.1:n.-5C>T | |
| ENST00000414822.8:c.29C>T | ENSP00000413720.3:p.Ser10Phe | |
| ENST00000430149.3:c.29C>T | ENSP00000411552.2:p.Ser10Phe | |
| ENST00000440480.8:c.-5C>T MANE Select | ENSP00000411257.2:n.-5C>T | |
| ENST00000647251.1:c.-5C>T | ENSP00000496631.1:n.-5C>T | |
| ENST00000380725.1:c.-5C>T | ENSP00000370101.1:n.-5C>T | |
| ENST00000414822.7:c.29C>T | ENSP00000413720.3:p.Ser10Phe | |
| ENST00000430149.2:c.29C>T | ENSP00000411552.2:p.Ser10Phe | |
| ENST00000440480.6:c.-5C>T | ENSP00000411257.2:n.-5C>T | |
| NM_000076.2:c.29C>T , LRG_533t1:c.29C>T | NP_000067.1:p.Ser10Phe | |
| NM_001122630.1:c.-5C>T | NP_001116102.1:n.-5C>T | |
| NM_001122631.1:c.-5C>T | NP_001116103.1:n.-5C>T | |
| XM_005252732.3:c.-5C>T | XP_005252789.1:n.-5C>T | |
| NM_001362474.1:c.29C>T | NP_001349403.1:p.Ser10Phe | |
| NM_001362475.1:c.-5C>T | NP_001349404.1:n.-5C>T | |
| NM_001122630.2:c.-5C>T MANE Select | NP_001116102.1:n.-5C>T | |
| NM_001122631.2:c.-5C>T | NP_001116103.1:n.-5C>T | |
| NM_001362474.2:c.29C>T | NP_001349403.1:p.Ser10Phe | |
| NM_001362475.2:c.-5C>T | NP_001349404.1:n.-5C>T |