Linked Data
ClinVar Variation Id:
7476
ClinVar RCV Id:
RCV000007902
dbSNP Id:
rs121909116
ExAC:
1:150483465 T / A
gnomAD v2:
1-150483465-T-A
gnomAD v3:
1-150510989-T-A
gnomAD v4:
1-150510989-T-A
PubMed:
PMID:12603844
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150510989T>A , CM000663.2:g.150510989T>A | GRCh38 |
| NC_000001.10:g.150483465T>A , CM000663.1:g.150483465T>A | GRCh37 |
| NC_000001.9:g.148750089T>A | NCBI36 |
| NG_012062.1:g.7979T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369047.9:c.499T>A MANE Select | ENSP00000358043.4:p.Phe167Ile | |
| ENST00000346569.6:c.499T>A | ENSP00000271630.6:p.Phe167Ile | |
| ENST00000369047.8:c.499T>A | ENSP00000358043.4:p.Phe167Ile | |
| ENST00000369049.8:c.580T>A | ENSP00000358045.4:p.Phe194Ile | |
| ENST00000470432.5:n.1598T>A | ||
| ENST00000498579.5:n.786T>A | ||
| NM_001202858.1:c.580T>A | NP_001189787.1:p.Phe194Ile | |
| NM_004425.3:c.499T>A | NP_004416.2:p.Phe167Ile | |
| NM_022664.2:c.499T>A | NP_073155.2:p.Phe167Ile | |
| NM_004425.4:c.499T>A MANE Select | NP_004416.2:p.Phe167Ile | |
| NM_001202858.2:c.580T>A | NP_001189787.1:p.Phe194Ile | |
| NM_022664.3:c.499T>A | NP_073155.2:p.Phe167Ile |