Linked Data
ClinVar Variation Id:
446462
ClinVar RCV Id:
RCV000515647
dbSNP Id:
rs1399914687
gnomAD v4:
7-107704370-T-C
PubMed:
PMID:24105851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107704370T>C , CM000669.2:g.107704370T>C | GRCh38 |
| NC_000007.13:g.107344815T>C , CM000669.1:g.107344815T>C | GRCh37 |
| NC_000007.12:g.107132051T>C | NCBI36 |
| NG_008489.1:g.48736T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.2074T>C MANE Select | ENSP00000494017.1:p.Phe692Leu | |
| ENST00000644846.1:c.745+2313T>C | ||
| ENST00000265715.7:c.2074T>C | ENSP00000265715.3:p.Phe692Leu | |
| ENST00000492030.2:n.361T>C | ||
| NM_000441.1:c.2074T>C | NP_000432.1:p.Phe692Leu | |
| XM_005250425.1:c.2074T>C | XP_005250482.1:p.Phe692Leu | |
| XM_005250425.2:c.2074T>C | XP_005250482.1:p.Phe692Leu | |
| XM_017012318.1:c.1996T>C | XP_016867807.1:p.Phe666Leu | |
| NM_000441.2:c.2074T>C MANE Select | NP_000432.1:p.Phe692Leu |