Linked Data
ClinVar Variation Id:
216577
dbSNP Id:
rs758599378
ExAC:
10:88681384 A / T
gnomAD v2:
10-88681384-A-T
gnomAD v3:
10-86921627-A-T
gnomAD v4:
10-86921627-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86921627A>T , CM000672.2:g.86921627A>T | GRCh38 |
| NC_000010.10:g.88681384A>T , CM000672.1:g.88681384A>T | GRCh37 |
| NC_000010.9:g.88671364A>T | NCBI36 |
| NG_009362.1:g.169989A>T , LRG_298:g.169989A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.1274A>T | ENSP00000483569.2:p.Tyr425Phe | |
| ENST00000635816.2:c.1274A>T | ENSP00000489707.1:p.Tyr425Phe | |
| ENST00000636056.2:c.1274A>T | ENSP00000490273.1:p.Tyr425Phe | |
| ENST00000372037.8:c.1274A>T MANE Select | ENSP00000361107.2:p.Tyr425Phe | |
| ENST00000635816.1:c.1274A>T | ENSP00000489707.1:p.Tyr425Phe | |
| ENST00000636056.1:c.1274A>T | ENSP00000490273.1:p.Tyr425Phe | |
| ENST00000638429.1:c.1274A>T | ENSP00000492290.1:p.Tyr425Phe | |
| ENST00000372037.7:c.1274A>T | ENSP00000361107.1:p.Tyr425Phe | |
| NM_004329.2:c.1274A>T , LRG_298t1:c.1274A>T | NP_004320.2:p.Tyr425Phe | |
| XM_011540103.1:c.1274A>T | XP_011538405.1:p.Tyr425Phe | |
| XM_011540104.1:c.1274A>T | XP_011538406.1:p.Tyr425Phe | |
| XM_011540103.2:c.1274A>T | XP_011538405.1:p.Tyr425Phe | |
| XM_011540104.2:c.1274A>T | XP_011538406.1:p.Tyr425Phe | |
| NM_004329.3:c.1274A>T MANE Select | NP_004320.2:p.Tyr425Phe |