Linked Data
ClinVar Variation Id:
2820675
ClinVar RCV Id:
RCV003741831
dbSNP Id:
rs1399612102
gnomAD v2:
1-161276663-A-G
gnomAD v3:
1-161306873-A-G
gnomAD v4:
1-161306873-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306873A>G , CM000663.2:g.161306873A>G | GRCh38 |
| NC_000001.10:g.161276663A>G , CM000663.1:g.161276663A>G | GRCh37 |
| NC_000001.9:g.159543287A>G | NCBI36 |
| NG_008055.1:g.8100T>C , LRG_256:g.8100T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526189.3:c.283T>C | ENSP00000488104.2:p.Phe95Leu | |
| ENST00000533357.5:c.283T>C MANE Select | ENSP00000432943.1:p.Phe95Leu | |
| ENST00000672287.2:c.-306T>C | ENSP00000499818.2:n.-306T>C | |
| ENST00000672602.2:c.283T>C | ENSP00000500814.2:p.Phe95Leu | |
| ENST00000674861.1:n.346T>C | ||
| ENST00000463290.5:c.283T>C | ENSP00000431538.1:p.Phe95Leu | |
| ENST00000491222.5:c.-306T>C | ENSP00000431441.1:n.-306T>C | |
| ENST00000526189.2:c.27T>C | ||
| ENST00000533357.4:c.283T>C | ENSP00000432943.1:p.Phe95Leu | |
| NM_000530.6:c.283T>C , LRG_256t1:c.283T>C | NP_000521.2:p.Phe95Leu | |
| NM_000530.7:c.283T>C | NP_000521.2:p.Phe95Leu | |
| NM_001315491.1:c.283T>C | NP_001302420.1:p.Phe95Leu | |
| XM_017001321.2:c.313T>C | XP_016856810.1:p.Phe105Leu | |
| NM_000530.8:c.283T>C MANE Select | NP_000521.2:p.Phe95Leu | |
| NM_001315491.2:c.283T>C | NP_001302420.1:p.Phe95Leu |