Linked Data
ClinVar Variation Id:
2908857
ClinVar RCV Id:
RCV003627396
dbSNP Id:
rs1396628228
gnomAD v2:
12-5154780-C-G
gnomAD v4:
12-5045614-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045614C>G , CM000674.2:g.5045614C>G | GRCh38 |
| NC_000012.11:g.5154780C>G , CM000674.1:g.5154780C>G | GRCh37 |
| NC_000012.10:g.5025041C>G | NCBI36 |
| NG_012198.1:g.6696C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1467C>G MANE Select | ENSP00000252321.3:p.Ile489Met | |
| ENST00000252321.4:c.1467C>G | ENSP00000252321.3:p.Ile489Met | |
| NM_002234.3:c.1467C>G | NP_002225.2:p.Ile489Met | |
| NM_002234.4:c.1467C>G MANE Select | NP_002225.2:p.Ile489Met |