Linked Data
ClinVar Variation Id:
293299
dbSNP Id:
rs71639057
gnomAD v2:
1-161274618-T-A
gnomAD v3:
1-161304828-T-A
gnomAD v4:
1-161304828-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161304828T>A , CM000663.2:g.161304828T>A | GRCh38 |
| NC_000001.10:g.161274618T>A , CM000663.1:g.161274618T>A | GRCh37 |
| NC_000001.9:g.159541242T>A | NCBI36 |
| NG_008055.1:g.10145A>T , LRG_256:g.10145A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000533357.5:c.*1048A>T MANE Select | ENSP00000432943.1:n.*1048A>T | |
| ENST00000672287.2:c.*1048A>T | ENSP00000499818.2:n.*1048A>T | |
| ENST00000672602.2:c.*856A>T | ENSP00000500814.2:n.*856A>T | |
| ENST00000674861.1:n.1858A>T | ||
| ENST00000463290.5:c.*804A>T | ENSP00000431538.1:n.*804A>T | |
| ENST00000491222.5:c.*1048A>T | ENSP00000431441.1:n.*1048A>T | |
| ENST00000533357.4:c.*1048A>T | ENSP00000432943.1:n.*1048A>T | |
| NM_000530.6:c.*1048A>T , LRG_256t1:c.*1048A>T | NP_000521.2:n.*1048A>T | |
| NM_000530.7:c.*1048A>T | NP_000521.2:n.*1048A>T | |
| NM_001315491.1:c.*856A>T | NP_001302420.1:n.*856A>T | |
| XM_017001321.2:c.676-487A>T | XP_016856810.1:n.676-487A>T | |
| NM_000530.8:c.*1048A>T MANE Select | NP_000521.2:n.*1048A>T | |
| NM_001315491.2:c.*856A>T | NP_001302420.1:n.*856A>T |