Linked Data
ClinVar Variation Id:
95746
dbSNP Id:
rs142710242
ExAC:
3:100963593 T / C
gnomAD v2:
3-100963593-T-C
gnomAD v3:
3-101244749-T-C
gnomAD v4:
3-101244749-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101244749T>C , CM000665.2:g.101244749T>C | GRCh38 |
| NC_000003.11:g.100963593T>C , CM000665.1:g.100963593T>C | GRCh37 |
| NC_000003.10:g.102446283T>C | NCBI36 |
| NG_028284.1:g.80827A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.1582A>G MANE Select | ENSP00000193391.6:p.Ile528Val | |
| ENST00000193391.7:c.1582A>G | ENSP00000193391.6:p.Ile528Val | |
| NM_016247.3:c.1582A>G | NP_057331.2:p.Ile528Val | |
| XM_011512871.1:c.1288A>G | XP_011511173.1:p.Ile430Val | |
| XM_011512872.1:c.1171A>G | XP_011511174.1:p.Ile391Val | |
| NM_016247.4:c.1582A>G MANE Select | NP_057331.2:p.Ile528Val |