Linked Data
ClinVar Variation Id:
2971930
ClinVar RCV Id:
RCV003832992
dbSNP Id:
rs772762096
gnomAD v2:
12-5154739-G-A
gnomAD v4:
12-5045573-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045573G>A , CM000674.2:g.5045573G>A | GRCh38 |
| NC_000012.11:g.5154739G>A , CM000674.1:g.5154739G>A | GRCh37 |
| NC_000012.10:g.5025000G>A | NCBI36 |
| NG_012198.1:g.6655G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1426G>A MANE Select | ENSP00000252321.3:p.Val476Ile | |
| ENST00000252321.4:c.1426G>A | ENSP00000252321.3:p.Val476Ile | |
| NM_002234.3:c.1426G>A | NP_002225.2:p.Val476Ile | |
| NM_002234.4:c.1426G>A MANE Select | NP_002225.2:p.Val476Ile |