Linked Data
ClinVar Variation Id:
214462
dbSNP Id:
rs863224022
gnomAD v2:
17-41063334-T-A
gnomAD v4:
17-42911317-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911317T>A , CM000679.2:g.42911317T>A | GRCh38 |
| NC_000017.10:g.41063334T>A , CM000679.1:g.41063334T>A | GRCh37 |
| NC_000017.9:g.38316860T>A | NCBI36 |
| NG_011808.1:g.15520T>A , LRG_147:g.15520T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.965T>A MANE Select | ENSP00000253801.1:p.Phe322Tyr | |
| ENST00000253801.6:c.965T>A | ENSP00000253801.1:p.Phe322Tyr | |
| ENST00000585489.1:c.*357T>A | ENSP00000466202.1:n.*357T>A | |
| ENST00000592383.5:c.*357T>A | ENSP00000465958.1:n.*357T>A | |
| NM_000151.3:c.965T>A | NP_000142.2:p.Phe322Tyr | |
| NM_001270397.1:c.*357T>A | NP_001257326.1:n.*357T>A | |
| NM_000151.4:c.965T>A MANE Select | NP_000142.2:p.Phe322Tyr | |
| NM_001270397.2:c.*357T>A | NP_001257326.1:n.*357T>A |