Linked Data
ClinVar Variation Id:
1931195
ClinVar RCV Id:
RCV002631441
dbSNP Id:
rs935130140
gnomAD v2:
2-198570536-T-G
gnomAD v3:
2-197705812-T-G
gnomAD v4:
2-197705812-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197705812T>G , CM000664.2:g.197705812T>G | GRCh38 |
| NC_000002.11:g.198570536T>G , CM000664.1:g.198570536T>G | GRCh37 |
| NC_000002.10:g.198278781T>G | NCBI36 |
| NG_034122.1:g.5509T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282276.8:c.407T>G MANE Select | ENSP00000282276.6:p.Ile136Ser | |
| ENST00000282276.7:c.407T>G | ENSP00000282276.6:p.Ile136Ser | |
| NM_138395.3:c.407T>G | NP_612404.1:p.Ile136Ser | |
| NM_138395.4:c.407T>G MANE Select | NP_612404.1:p.Ile136Ser |