Linked Data
dbSNP Id:
rs2024080652
gnomAD v4:
19-7561097-T-C
MyVariant Identifiers:
chr19:g.7625983T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7561097T>C , CM000681.2:g.7561097T>C | GRCh38 |
| NC_000019.9:g.7625983T>C , CM000681.1:g.7625983T>C | GRCh37 |
| NC_000019.8:g.7531983T>C | NCBI36 |
| NG_013374.1:g.31946T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3900T>C MANE Select | ENSP00000473211.1:p.Asp1300= | |
| ENST00000221249.10:c.3786T>C | ENSP00000221249.5:p.Asp1262= | |
| ENST00000414982.7:c.3930T>C | ENSP00000407509.2:p.Asp1310= | |
| ENST00000450331.7:c.3786T>C | ENSP00000394348.2:p.Asp1262= | |
| ENST00000545201.6:c.3705T>C | ENSP00000443323.1:p.Asp1235= | |
| ENST00000597202.1:n.258T>C | ||
| ENST00000599947.1:c.269T>C | ||
| ENST00000600737.5:c.3900T>C | ENSP00000473211.1:p.Asp1300= | |
| NM_001166111.1:c.3930T>C | NP_001159583.1:p.Asp1310= | |
| NM_001166112.1:c.3705T>C | NP_001159584.1:p.Asp1235= | |
| NM_001166113.1:c.3786T>C | NP_001159585.1:p.Asp1262= | |
| NM_001166114.1:c.3900T>C | NP_001159586.1:p.Asp1300= | |
| NM_006702.4:c.3786T>C | NP_006693.3:p.Asp1262= | |
| NM_001166111.2:c.3930T>C | NP_001159583.1:p.Asp1310= | |
| NM_001166114.2:c.3900T>C MANE Select | NP_001159586.1:p.Asp1300= | |
| NM_006702.5:c.3786T>C | NP_006693.3:p.Asp1262= | |
| NM_001166112.2:c.3705T>C | NP_001159584.1:p.Asp1235= |