Linked Data
ClinVar Variation Id:
7892
ClinVar RCV Id:
RCV000008346
RCV000085773
RCV000259062
RCV000408598
RCV000778995
RCV000787515
RCV001073250
dbSNP Id:
rs28938473
ExAC:
1:94473287 G / A
gnomAD v2:
1-94473287-G-A
gnomAD v3:
1-94007731-G-A
gnomAD v4:
1-94007731-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94007731G>A , CM000663.2:g.94007731G>A | GRCh38 |
| NC_000001.10:g.94473287G>A , CM000663.1:g.94473287G>A | GRCh37 |
| NC_000001.9:g.94245875G>A | NCBI36 |
| NG_009073.1:g.118419C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5908C>T MANE Select | ENSP00000359245.3:p.Leu1970Phe | |
| ENST00000370225.3:c.5908C>T | ENSP00000359245.3:p.Leu1970Phe | |
| ENST00000465352.1:n.324C>T | ||
| ENST00000484388.1:n.22C>T | ||
| ENST00000536513.5:c.2284C>T | ENSP00000439707.2:p.Leu762Phe | |
| NM_000350.2:c.5908C>T | NP_000341.2:p.Leu1970Phe | |
| NM_000350.3:c.5908C>T MANE Select | NP_000341.2:p.Leu1970Phe |