Linked Data
ClinVar Variation Id:
156449
ClinVar RCV Id:
RCV000144509
dbSNP Id:
rs587777793
gnomAD v4:
3-179204509-G-A
PubMed:
PMID:23246288
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179204509G>A , CM000665.2:g.179204509G>A | GRCh38 |
| NC_000003.11:g.178922297G>A , CM000665.1:g.178922297G>A | GRCh37 |
| NC_000003.10:g.180404991G>A | NCBI36 |
| NG_012113.2:g.60987G>A , LRG_310:g.60987G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1066G>A MANE Select | ENSP00000263967.3:p.Val356Ile | |
| ENST00000643187.1:c.1066G>A | ENSP00000493507.1:p.Val356Ile | |
| ENST00000674534.1:n.820G>A | ||
| ENST00000675467.1:n.3873G>A | ||
| ENST00000675786.1:c.1066G>A | ENSP00000502323.1:p.Val356Ile | |
| ENST00000263967.3:c.1066G>A | ENSP00000263967.3:p.Val356Ile | |
| NM_006218.2:c.1066G>A , LRG_310t1:c.1066G>A | NP_006209.2:p.Val356Ile | |
| XM_006713658.2:c.1066G>A | XP_006713721.1:p.Val356Ile | |
| XM_011512894.1:c.1066G>A | XP_011511196.1:p.Val356Ile | |
| NM_006218.3:c.1066G>A | NP_006209.2:p.Val356Ile | |
| XM_006713658.4:c.1066G>A | XP_006713721.1:p.Val356Ile | |
| XM_011512894.2:c.1066G>A | XP_011511196.1:p.Val356Ile | |
| NM_006218.4:c.1066G>A MANE Select | NP_006209.2:p.Val356Ile |