Linked Data
ClinVar Variation Id:
891315
dbSNP Id:
rs139308660
gnomAD v2:
17-42326433-T-A
gnomAD v3:
17-44249065-T-A
gnomAD v4:
17-44249065-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44249065T>A , CM000679.2:g.44249065T>A | GRCh38 |
| NC_000017.10:g.42326433T>A , CM000679.1:g.42326433T>A | GRCh37 |
| NC_000017.9:g.39681959T>A | NCBI36 |
| NG_007498.1:g.24070A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.*1393A>T MANE Select | ENSP00000262418.6:n.*1393A>T | |
| ENST00000262418.10:c.*1393A>T | ENSP00000262418.6:n.*1393A>T | |
| ENST00000399246.3:c.*1393A>T | ENSP00000382190.3:n.*1393A>T | |
| ENST00000631130.1:c.*29A>T | ENSP00000486787.1:n.*29A>T | |
| NM_000342.3:c.*1393A>T | NP_000333.1:n.*1393A>T | |
| XM_005257593.3:c.*1393A>T | XP_005257650.1:n.*1393A>T | |
| XM_011525129.1:c.*1393A>T | XP_011523431.1:n.*1393A>T | |
| NM_000342.4:c.*1393A>T MANE Select | NP_000333.1:n.*1393A>T |