Linked Data
ClinVar Variation Id:
342323
ClinVar RCV Id:
RCV000408316
dbSNP Id:
rs114271586
gnomAD v2:
3-100945425-T-C
gnomAD v3:
3-101226581-T-C
gnomAD v4:
3-101226581-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101226581T>C , CM000665.2:g.101226581T>C | GRCh38 |
| NC_000003.11:g.100945425T>C , CM000665.1:g.100945425T>C | GRCh37 |
| NC_000003.10:g.102428115T>C | NCBI36 |
| NG_028284.1:g.98995A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.*388A>G MANE Select | ENSP00000193391.6:n.*388A>G | |
| ENST00000193391.7:c.*388A>G | ENSP00000193391.6:n.*388A>G | |
| NM_016247.3:c.*388A>G | NP_057331.2:n.*388A>G | |
| XM_011512871.1:c.*388A>G | XP_011511173.1:n.*388A>G | |
| XM_011512872.1:c.*388A>G | XP_011511174.1:n.*388A>G | |
| NM_016247.4:c.*388A>G MANE Select | NP_057331.2:n.*388A>G |