Linked Data
dbSNP Id:
rs1198073206
gnomAD v2:
19-33954922-T-G
gnomAD v3:
19-33464016-T-G
gnomAD v4:
19-33464016-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33464016T>G , CM000681.2:g.33464016T>G | GRCh38 |
| NC_000019.9:g.33954922T>G , CM000681.1:g.33954922T>G | GRCh37 |
| NC_000019.8:g.38646762T>G | NCBI36 |
| NG_013358.1:g.62878A>C | |
| NG_013358.2:g.62878A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588328.7:c.595A>C | ENSP00000468516.4:p.Asn199His | |
| ENST00000651646.2:c.595A>C | ENSP00000498950.2:p.Asn199His | |
| ENST00000651901.2:c.595A>C | ENSP00000498922.2:p.Asn199His | |
| ENST00000698359.1:c.550A>C | ENSP00000513682.1:p.Asn184His | |
| ENST00000698360.1:c.595A>C | ENSP00000513683.1:p.Asn199His | |
| ENST00000698361.1:c.595A>C | ENSP00000513684.1:p.Asn199His | |
| ENST00000698362.1:c.595A>C | ENSP00000513685.1:p.Asn199His | |
| ENST00000698363.1:n.658A>C | ||
| ENST00000698364.1:n.658A>C | ||
| ENST00000698365.1:n.658A>C | ||
| ENST00000698426.1:c.274A>C | ENSP00000513713.1:p.Asn92His | |
| ENST00000698427.1:c.637A>C | ENSP00000513714.1:p.Asn213His | |
| ENST00000698428.1:c.274A>C | ENSP00000513715.1:p.Asn92His | |
| ENST00000698430.1:c.845A>C | ||
| ENST00000698431.1:c.332A>C | ENSP00000513717.1:n.332A>C | |
| ENST00000698432.1:c.404A>C | ||
| ENST00000698435.1:c.283A>C | ENSP00000513719.1:p.Asn95His | |
| ENST00000698436.1:c.*207A>C | ENSP00000513720.1:n.*207A>C | |
| ENST00000698437.1:n.578A>C | ||
| ENST00000698438.1:n.577A>C | ||
| ENST00000698439.1:c.452A>C | ENSP00000513721.1:n.452A>C | |
| ENST00000244137.12:c.595A>C MANE Select | ENSP00000244137.5:p.Asn199His | |
| ENST00000588328.6:c.584A>C | ||
| ENST00000590731.6:n.270A>C | ||
| ENST00000651646.1:c.593A>C | ||
| ENST00000651901.1:c.591A>C | ||
| ENST00000244137.11:c.595A>C | ENSP00000244137.5:p.Asn199His | |
| ENST00000397032.8:c.548+14030A>C | ENSP00000380226.3:n.548+14030A>C | |
| ENST00000436370.7:c.403A>C | ENSP00000391890.2:p.Asn135His | |
| ENST00000588328.5:c.86A>C | ||
| ENST00000588719.5:n.230A>C | ||
| ENST00000590408.1:c.313A>C | ||
| ENST00000590731.5:n.270A>C | ||
| ENST00000590755.6:c.422A>C | ENSP00000476667.1:n.422A>C | |
| ENST00000593163.5:n.760A>C | ||
| ENST00000609145.5:c.28A>C | ENSP00000476514.1:p.Asn10His | |
| NM_000285.3:c.595A>C | NP_000276.2:p.Asn199His | |
| NM_001166056.1:c.548+14030A>C | NP_001159528.1:n.548+14030A>C | |
| NM_001166057.1:c.403A>C | NP_001159529.1:p.Asn135His | |
| NM_000285.4:c.595A>C MANE Select | NP_000276.2:p.Asn199His | |
| NM_001166056.2:c.548+14030A>C | NP_001159528.1:n.548+14030A>C | |
| NM_001166057.2:c.403A>C | NP_001159529.1:p.Asn135His |