Linked Data
ClinVar Variation Id:
1230941
ClinVar RCV Id:
RCV001616988
dbSNP Id:
rs757412
gnomAD v2:
17-38784927-G-A
gnomAD v3:
17-40628675-G-A
gnomAD v4:
17-40628675-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628675G>A , CM000679.2:g.40628675G>A | GRCh38 |
| NC_000017.10:g.38784927G>A , CM000679.1:g.38784927G>A | GRCh37 |
| NC_000017.9:g.36038453G>A | NCBI36 |
| NG_032163.1:g.24177C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.*908C>T | ENSP00000466608.2:n.*908C>T | |
| ENST00000348513.12:c.*110C>T MANE Select | ENSP00000323967.6:n.*110C>T | |
| ENST00000377808.9:c.*333C>T | ENSP00000367039.4:n.*333C>T | |
| ENST00000400122.8:c.*333C>T | ENSP00000411607.2:n.*333C>T | |
| ENST00000469334.6:n.1944C>T | ||
| ENST00000578112.6:c.*1143C>T | ENSP00000464501.1:n.*1143C>T | |
| ENST00000580419.6:c.*325C>T | ENSP00000462475.2:n.*325C>T | |
| ENST00000642576.1:n.2489C>T | ||
| ENST00000643030.1:n.1969C>T | ||
| ENST00000643255.1:c.*3410C>T | ENSP00000493957.1:n.*3410C>T | |
| ENST00000643318.1:c.*110C>T | ENSP00000494771.1:n.*110C>T | |
| ENST00000643378.1:n.1901C>T | ||
| ENST00000643683.1:c.*110C>T | ENSP00000496094.1:n.*110C>T | |
| ENST00000643893.1:n.1639C>T | ||
| ENST00000644443.1:n.3234C>T | ||
| ENST00000644523.1:n.1392C>T | ||
| ENST00000644527.1:c.*110C>T | ENSP00000493974.1:n.*110C>T | |
| ENST00000644701.1:c.*333C>T | ENSP00000496097.1:n.*333C>T | |
| ENST00000644909.1:c.*615C>T | ENSP00000493649.1:n.*615C>T | |
| ENST00000645152.1:n.2009C>T | ||
| ENST00000645227.1:c.*1034C>T | ENSP00000495021.1:n.*1034C>T | |
| ENST00000646242.1:n.7258C>T | ||
| ENST00000646283.1:c.*110C>T | ENSP00000494537.1:n.*110C>T | |
| ENST00000646401.1:n.2712C>T | ||
| ENST00000646856.1:c.*1222C>T | ENSP00000494505.1:n.*1222C>T | |
| ENST00000647294.1:c.*1276C>T | ENSP00000494815.1:n.*1276C>T | |
| ENST00000647508.1:c.*110C>T | ENSP00000496445.1:n.*110C>T | |
| ENST00000647515.1:c.*877C>T | ENSP00000495857.1:n.*877C>T | |
| ENST00000348513.10:c.*110C>T | ENSP00000323967.6:n.*110C>T | |
| ENST00000431889.6:c.*110C>T | ENSP00000445370.1:n.*110C>T | |
| ENST00000469334.5:n.1933C>T | ||
| ENST00000578112.5:c.*1143C>T | ENSP00000464501.1:n.*1143C>T | |
| NM_003079.4:c.*110C>T | NP_003070.3:n.*110C>T | |
| NM_003079.5:c.*110C>T MANE Select | NP_003070.3:n.*110C>T |