Linked Data
ClinVar Variation Id:
7882
ClinVar RCV Id:
RCV000008332
RCV000008333
RCV000085785
RCV000763438
RCV000826132
RCV001074885
RCV002247268
dbSNP Id:
rs61751408
ExAC:
1:94471065 G / A
gnomAD v2:
1-94471065-G-A
gnomAD v3:
1-94005509-G-A
gnomAD v4:
1-94005509-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94005509G>A , CM000663.2:g.94005509G>A | GRCh38 |
| NC_000001.10:g.94471065G>A , CM000663.1:g.94471065G>A | GRCh37 |
| NC_000001.9:g.94243653G>A | NCBI36 |
| NG_009073.1:g.120641C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6079C>T MANE Select | ENSP00000359245.3:p.Leu2027Phe | |
| ENST00000370225.3:c.6079C>T | ENSP00000359245.3:p.Leu2027Phe | |
| ENST00000465352.1:n.495C>T | ||
| ENST00000484388.1:n.193C>T | ||
| ENST00000536513.5:c.2455C>T | ENSP00000439707.2:p.Leu819Phe | |
| NM_000350.2:c.6079C>T | NP_000341.2:p.Leu2027Phe | |
| NM_000350.3:c.6079C>T MANE Select | NP_000341.2:p.Leu2027Phe |