Linked Data
ClinVar Variation Id:
190231
ClinVar RCV Id:
RCV000170453
dbSNP Id:
rs786205217
gnomAD v3:
8-22201444-T-C
gnomAD v4:
8-22201444-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22201444T>C , CM000670.2:g.22201444T>C | GRCh38 |
| NC_000008.10:g.22058957T>C , CM000670.1:g.22058957T>C | GRCh37 |
| NC_000008.9:g.22114902T>C | NCBI36 |
| NG_029659.1:g.41305T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306349.13:c.*241T>C MANE Plus Clinical | ENSP00000306121.8:n.*241T>C | |
| ENST00000306385.10:c.2108-359T>C MANE Select | ENSP00000305714.5:n.2108-359T>C | |
| ENST00000520626.6:c.*2281T>C | ENSP00000430015.2:n.*2281T>C | |
| ENST00000306349.12:c.*241T>C | ENSP00000306121.8:n.*241T>C | |
| ENST00000306385.9:c.2108-359T>C | ENSP00000305714.5:n.2108-359T>C | |
| ENST00000354870.5:c.*1365-359T>C | ENSP00000346941.5:n.*1365-359T>C | |
| ENST00000518913.5:c.*1901T>C | ENSP00000427950.1:n.*1901T>C | |
| ENST00000520626.5:c.*2281T>C | ENSP00000430015.1:n.*2281T>C | |
| ENST00000520970.5:c.*241T>C | ENSP00000428332.1:n.*241T>C | |
| ENST00000520982.5:c.*1575-359T>C | ENSP00000428798.1:n.*1575-359T>C | |
| ENST00000522332.1:n.1299T>C | ||
| NM_001199.3:c.*241T>C | NP_001190.1:n.*241T>C | |
| NM_006129.4:c.2108-359T>C | NP_006120.1:n.2108-359T>C | |
| NR_033403.1:n.2411-359T>C | ||
| NR_033404.1:n.2737T>C | ||
| XR_949458.1:n.2481-359T>C | ||
| XR_001745579.2:n.2642T>C | ||
| XR_949458.2:n.2423-359T>C | ||
| NM_006129.5:c.2108-359T>C MANE Select | NP_006120.1:n.2108-359T>C | |
| NM_001199.4:c.*241T>C MANE Plus Clinical | NP_001190.1:n.*241T>C | |
| NR_033403.2:n.2179-359T>C | ||
| NR_033404.2:n.2505T>C |