Linked Data
ClinVar Variation Id:
2980108
ClinVar RCV Id:
RCV003837282
dbSNP Id:
rs2039448032
gnomAD v4:
19-42356097-C-T
MyVariant Identifiers:
chr19:g.42860249C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42356097C>T , CM000681.2:g.42356097C>T | GRCh38 |
| NC_000019.9:g.42860249C>T , CM000681.1:g.42860249C>T | GRCh37 |
| NC_000019.8:g.47552089C>T | NCBI36 |
| NG_033030.1:g.35489C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251268.11:c.4407C>T MANE Select | ENSP00000251268.5:p.Cys1469= | |
| ENST00000251268.10:c.4407C>T | ENSP00000251268.5:p.Cys1469= | |
| ENST00000334370.8:c.4206C>T | ENSP00000334219.4:p.Cys1402= | |
| ENST00000378073.5:c.-2679C>T | ENSP00000367313.4:n.-2679C>T | |
| NM_001271938.1:c.4407C>T | NP_001258867.1:p.Cys1469= | |
| NM_001410.2:c.4206C>T | NP_001401.2:p.Cys1402= | |
| NM_001271938.2:c.4407C>T MANE Select | NP_001258867.1:p.Cys1469= | |
| NM_001410.3:c.4206C>T | NP_001401.2:p.Cys1402= |