Linked Data
dbSNP Id:
rs772139535
ExAC:
19:33878370 G / A
gnomAD v2:
19-33878370-G-A
gnomAD v4:
19-33387464-G-A
MyVariant Identifiers:
chr19:g.33878370G>A (hg19)
chr19:g.33878370_33878373delinsATCC (hg19)
chr19:g.33387464G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33387464G>A , CM000681.2:g.33387464G>A | GRCh38 |
| NC_000019.9:g.33878370G>A , CM000681.1:g.33878370G>A | GRCh37 |
| NC_000019.8:g.38570210G>A | NCBI36 |
| NG_013358.1:g.139430C>T | |
| NG_013358.2:g.139430C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.1428C>T | ENSP00000468516.4:p.Asp476= | |
| ENST00000651901.2:c.1452C>T | ENSP00000498922.2:p.Asp484= | |
| ENST00000698359.1:c.1317C>T | ENSP00000513682.1:p.Asp439= | |
| ENST00000698360.1:c.1413C>T | ENSP00000513683.1:p.Asp471= | |
| ENST00000698361.1:c.1478C>T | ENSP00000513684.1:p.Thr493Met | |
| ENST00000698362.1:c.*499C>T | ENSP00000513685.1:n.*499C>T | |
| ENST00000698426.1:c.1041C>T | ENSP00000513713.1:p.Asp347= | |
| ENST00000698427.1:c.1404C>T | ENSP00000513714.1:p.Asp468= | |
| ENST00000698428.1:c.1041C>T | ENSP00000513715.1:p.Asp347= | |
| ENST00000698429.1:n.1245C>T | ||
| ENST00000698430.1:c.1612C>T | ||
| ENST00000698431.1:c.1099C>T | ENSP00000513717.1:n.1099C>T | |
| ENST00000698432.1:c.1171C>T | ||
| ENST00000698433.1:n.824C>T | ||
| ENST00000244137.12:c.1362C>T MANE Select | ENSP00000244137.5:p.Asp454= | |
| ENST00000588328.6:c.1417C>T | ||
| ENST00000651901.1:c.1448C>T | ||
| ENST00000244137.11:c.1362C>T | ENSP00000244137.5:p.Asp454= | |
| ENST00000397032.8:c.1239C>T | ENSP00000380226.3:p.Asp413= | |
| ENST00000436370.7:c.1170C>T | ENSP00000391890.2:p.Asp390= | |
| ENST00000589598.5:n.87C>T | ||
| ENST00000591968.1:n.434C>T | ||
| ENST00000593085.1:n.1249C>T | ||
| NM_000285.3:c.1362C>T | NP_000276.2:p.Asp454= | |
| NM_001166056.1:c.1239C>T | NP_001159528.1:p.Asp413= | |
| NM_001166057.1:c.1170C>T | NP_001159529.1:p.Asp390= | |
| NM_000285.4:c.1362C>T MANE Select | NP_000276.2:p.Asp454= | |
| NM_001166056.2:c.1239C>T | NP_001159528.1:p.Asp413= | |
| NM_001166057.2:c.1170C>T | NP_001159529.1:p.Asp390= |