Linked Data
ClinVar Variation Id:
1982948
ClinVar RCV Id:
RCV002785678
dbSNP Id:
rs730880419
ExAC:
3:8787257 T / G
gnomAD v2:
3-8787257-T-G
gnomAD v4:
3-8745571-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745571T>G , CM000665.2:g.8745571T>G | GRCh38 |
| NC_000003.11:g.8787257T>G , CM000665.1:g.8787257T>G | GRCh37 |
| NC_000003.10:g.8762257T>G | NCBI36 |
| NG_008797.2:g.16762T>G , LRG_329:g.16762T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.160T>G MANE Select | ENSP00000341940.2:p.Phe54Val | |
| ENST00000343849.2:c.160T>G | ENSP00000341940.2:p.Phe54Val | |
| ENST00000397368.2:c.160T>G | ENSP00000380525.2:p.Phe54Val | |
| ENST00000472766.1:n.155+11581T>G | ||
| NM_001234.4:c.160T>G | NP_001225.1:p.Phe54Val | |
| NM_033337.2:c.160T>G , LRG_329t1:c.160T>G | NP_203123.1:p.Phe54Val | |
| NM_001234.5:c.160T>G | NP_001225.1:p.Phe54Val | |
| NM_033337.3:c.160T>G MANE Select | NP_203123.1:p.Phe54Val |