Linked Data
ClinVar Variation Id:
2892138
ClinVar RCV Id:
RCV003650184
dbSNP Id:
rs1174723753
gnomAD v2:
19-42863333-C-T
gnomAD v3:
19-42359181-C-T
gnomAD v4:
19-42359181-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42359181C>T , CM000681.2:g.42359181C>T | GRCh38 |
| NC_000019.9:g.42863333C>T , CM000681.1:g.42863333C>T | GRCh37 |
| NC_000019.8:g.47555173C>T | NCBI36 |
| NG_033030.1:g.38573C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251268.11:c.5427C>T MANE Select | ENSP00000251268.5:p.Phe1809= | |
| ENST00000251268.10:c.5427C>T | ENSP00000251268.5:p.Phe1809= | |
| ENST00000334370.8:c.5226C>T | ENSP00000334219.4:p.Phe1742= | |
| ENST00000378073.5:c.-1659C>T | ENSP00000367313.4:n.-1659C>T | |
| NM_001271938.1:c.5427C>T | NP_001258867.1:p.Phe1809= | |
| NM_001410.2:c.5226C>T | NP_001401.2:p.Phe1742= | |
| NM_001271938.2:c.5427C>T MANE Select | NP_001258867.1:p.Phe1809= | |
| NM_001410.3:c.5226C>T | NP_001401.2:p.Phe1742= |