Linked Data
ClinVar Variation Id:
205818
dbSNP Id:
rs796052604
gnomAD v3:
1-160042312-G-A
gnomAD v4:
1-160042312-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160042312G>A , CM000663.2:g.160042312G>A | GRCh38 |
| NC_000001.10:g.160012102G>A , CM000663.1:g.160012102G>A | GRCh37 |
| NC_000001.9:g.158278726G>A | NCBI36 |
| NG_016411.1:g.32860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.193C>T | ||
| ENST00000636689.1:n.95-2964C>T | ||
| ENST00000637644.1:c.221C>T | ENSP00000490282.1:p.Thr74Ile | |
| ENST00000638728.1:c.221C>T | ENSP00000492619.1:p.Thr74Ile | |
| ENST00000638868.1:c.221C>T | ENSP00000491250.1:p.Thr74Ile | |
| ENST00000639408.1:c.221C>T | ENSP00000491635.1:p.Thr74Ile | |
| ENST00000640017.1:c.191C>T | ENSP00000491337.1:p.Thr64Ile | |
| ENST00000644903.1:c.221C>T MANE Select | ENSP00000495557.1:p.Thr74Ile | |
| ENST00000368089.3:c.221C>T | ENSP00000357068.3:p.Thr74Ile | |
| NM_002241.4:c.221C>T | NP_002232.2:p.Thr74Ile | |
| NM_002241.5:c.221C>T MANE Select | NP_002232.2:p.Thr74Ile |