Linked Data
ClinVar Variation Id:
2993533
dbSNP Id:
rs767019118
ExAC:
1:94884068 A / T
gnomAD v2:
1-94884068-A-T
gnomAD v3:
1-94418512-A-T
gnomAD v4:
1-94418512-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94418512A>T , CM000663.2:g.94418512A>T | GRCh38 |
| NC_000001.10:g.94884068A>T , CM000663.1:g.94884068A>T | GRCh37 |
| NC_000001.9:g.94656656A>T | NCBI36 |
| NG_008865.1:g.5136A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370214.9:c.34A>T MANE Select | ENSP00000359233.4:p.Asn12Tyr | |
| ENST00000647998.2:c.34A>T | ENSP00000497921.2:p.Asn12Tyr | |
| ENST00000315713.5:c.34A>T | ENSP00000326880.5:p.Asn12Tyr | |
| ENST00000370214.8:c.34A>T | ENSP00000359233.4:p.Asn12Tyr | |
| NM_001122674.1:c.34A>T | NP_001116146.1:p.Asn12Tyr | |
| NM_002858.3:c.34A>T | NP_002849.1:p.Asn12Tyr | |
| XM_006710802.2:c.34A>T | XP_006710865.2:p.Asn12Tyr | |
| NM_002858.4:c.34A>T MANE Select | NP_002849.1:p.Asn12Tyr | |
| NM_001122674.2:c.34A>T | NP_001116146.1:p.Asn12Tyr |