Linked Data
ClinVar Variation Id:
2559398
ClinVar RCV Id:
RCV004329684
dbSNP Id:
rs1220595921
gnomAD v2:
10-96827024-A-G
gnomAD v3:
10-95067267-A-G
gnomAD v4:
10-95067267-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95067267A>G , CM000672.2:g.95067267A>G | GRCh38 |
| NC_000010.10:g.96827024A>G , CM000672.1:g.96827024A>G | GRCh37 |
| NC_000010.9:g.96817014A>G | NCBI36 |
| NG_007972.1:g.7231T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.422T>C MANE Select | ENSP00000360317.3:p.Ile141Thr | |
| ENST00000371270.5:c.422T>C | ENSP00000360317.3:p.Ile141Thr | |
| ENST00000479946.2:n.726T>C | ||
| ENST00000490994.6:c.*208T>C | ENSP00000433314.1:n.*208T>C | |
| ENST00000525991.5:c.297T>C | ENSP00000433842.1:p.His99= | |
| ENST00000526814.5:n.677T>C | ||
| ENST00000527420.5:c.422T>C | ENSP00000433191.1:p.Ile141Thr | |
| ENST00000527953.5:n.677T>C | ||
| ENST00000533320.5:n.656T>C | ||
| ENST00000535898.5:c.116T>C | ENSP00000445062.1:p.Ile39Thr | |
| ENST00000539050.5:c.212T>C | ENSP00000442343.2:p.Ile71Thr | |
| ENST00000623108.3:c.212T>C | ENSP00000485110.1:p.Ile71Thr | |
| ENST00000628935.1:c.164T>C | ENSP00000487145.1:p.Ile55Thr | |
| NM_000770.3:c.422T>C MANE Select | NP_000761.3:p.Ile141Thr | |
| NM_001198853.1:c.212T>C | NP_001185782.1:p.Ile71Thr | |
| NM_001198854.1:c.116T>C | NP_001185783.1:p.Ile39Thr | |
| NM_001198855.1:c.212T>C | NP_001185784.1:p.Ile71Thr | |
| XR_945610.1:n.518T>C |