Linked Data
ClinVar Variation Id:
3184574
ClinVar RCV Id:
RCV004481443
dbSNP Id:
rs1372010590
gnomAD v2:
6-167755060-C-A
gnomAD v4:
6-167341572-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167341572C>A , CM000668.2:g.167341572C>A | GRCh38 |
| NC_000006.11:g.167755060C>A , CM000668.1:g.167755060C>A | GRCh37 |
| NC_000006.10:g.167675050C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239587.10:c.1672C>A MANE Select | ENSP00000239587.5:p.Leu558Ile | |
| ENST00000649884.1:c.1453C>A | ENSP00000497040.1:p.Leu485Ile | |
| ENST00000239587.9:c.1672C>A | ENSP00000239587.5:p.Leu558Ile | |
| ENST00000515138.1:c.1672C>A | ENSP00000424130.1:p.Leu558Ile | |
| NM_031949.4:c.1672C>A | NP_114155.4:p.Leu558Ile | |
| XM_006715572.2:c.1453C>A | XP_006715635.1:p.Leu485Ile | |
| XM_006715572.4:c.1453C>A | XP_006715635.1:p.Leu485Ile | |
| NM_031949.5:c.1672C>A MANE Select | NP_114155.4:p.Leu558Ile |