Linked Data
ClinVar Variation Id:
309232
dbSNP Id:
rs200706192
ExAC:
12:50344683 G / A
gnomAD v2:
12-50344683-G-A
gnomAD v3:
12-49950900-G-A
gnomAD v4:
12-49950900-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950900G>A , CM000674.2:g.49950900G>A | GRCh38 |
| NC_000012.11:g.50344683G>A , CM000674.1:g.50344683G>A | GRCh37 |
| NC_000012.10:g.48630950G>A | NCBI36 |
| NG_008913.1:g.5160G>A , LRG_717:g.5160G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.70G>A MANE Select | ENSP00000199280.3:p.Val24Ile | |
| ENST00000199280.3:c.70G>A | ENSP00000199280.3:p.Val24Ile | |
| ENST00000550862.1:c.70G>A | ENSP00000450022.1:p.Val24Ile | |
| ENST00000551526.5:c.70G>A | ENSP00000447148.1:p.Val24Ile | |
| NM_000486.5:c.70G>A , LRG_717t1:c.70G>A | NP_000477.1:p.Val24Ile | |
| NM_000486.6:c.70G>A MANE Select | NP_000477.1:p.Val24Ile |