Linked Data
ClinVar Variation Id:
293099
dbSNP Id:
rs138511291
gnomAD v2:
1-160009344-G-A
gnomAD v3:
1-160039554-G-A
gnomAD v4:
1-160039554-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160039554G>A , CM000663.2:g.160039554G>A | GRCh38 |
| NC_000001.10:g.160009344G>A , CM000663.1:g.160009344G>A | GRCh37 |
| NC_000001.9:g.158275968G>A | NCBI36 |
| NG_016411.1:g.35618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.671+2280C>T | ||
| ENST00000636689.1:n.95-206C>T | ||
| ENST00000637644.1:c.487+2492C>T | ENSP00000490282.1:n.487+2492C>T | |
| ENST00000638728.1:c.*1839C>T | ENSP00000492619.1:n.*1839C>T | |
| ENST00000638840.1:c.1967C>T | ||
| ENST00000638868.1:c.*1839C>T | ENSP00000491250.1:n.*1839C>T | |
| ENST00000639408.1:c.587+948C>T | ENSP00000491635.1:n.587+948C>T | |
| ENST00000640017.1:c.1717C>T | ENSP00000491337.1:n.1717C>T | |
| ENST00000640914.1:c.224+948C>T | ||
| ENST00000644903.1:c.*1839C>T MANE Select | ENSP00000495557.1:n.*1839C>T | |
| ENST00000368089.3:c.*1839C>T | ENSP00000357068.3:n.*1839C>T | |
| NM_002241.4:c.*1839C>T | NP_002232.2:n.*1839C>T | |
| NM_002241.5:c.*1839C>T MANE Select | NP_002232.2:n.*1839C>T |