Linked Data
ClinVar Variation Id:
1433570
ClinVar RCV Id:
RCV001960130
dbSNP Id:
rs2113303062
gnomAD v4:
5-154477513-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154477513G>A , CM000667.2:g.154477513G>A | GRCh38 |
| NC_000005.9:g.153857073G>A , CM000667.1:g.153857073G>A | GRCh37 |
| NC_000005.8:g.153837266G>A | NCBI36 |
| NG_052889.1:g.5752C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231121.3:c.496C>T MANE Select | ENSP00000231121.2:p.Leu166Phe | |
| ENST00000231121.2:c.496C>T | ENSP00000231121.2:p.Leu166Phe | |
| NM_004821.2:c.496C>T | NP_004812.1:p.Leu166Phe | |
| XM_005268531.1:c.496C>T | XP_005268588.1:p.Leu166Phe | |
| NM_004821.3:c.496C>T MANE Select | NP_004812.1:p.Leu166Phe |