Linked Data
dbSNP Id:
rs770511622
ExAC:
12:5154835 A / G
gnomAD v2:
12-5154835-A-G
gnomAD v4:
12-5045669-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045669A>G , CM000674.2:g.5045669A>G | GRCh38 |
| NC_000012.11:g.5154835A>G , CM000674.1:g.5154835A>G | GRCh37 |
| NC_000012.10:g.5025096A>G | NCBI36 |
| NG_012198.1:g.6751A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1522A>G MANE Select | ENSP00000252321.3:p.Ile508Val | |
| ENST00000252321.4:c.1522A>G | ENSP00000252321.3:p.Ile508Val | |
| NM_002234.3:c.1522A>G | NP_002225.2:p.Ile508Val | |
| NM_002234.4:c.1522A>G MANE Select | NP_002225.2:p.Ile508Val |