Linked Data
ClinVar Variation Id:
702889
ClinVar RCV Id:
RCV003629144
dbSNP Id:
rs369820958
ExAC:
4:4864582 G / T
gnomAD v2:
4-4864582-G-T
gnomAD v3:
4-4862855-G-T
gnomAD v4:
4-4862855-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862855G>T , CM000666.2:g.4862855G>T | GRCh38 |
| NC_000004.11:g.4864582G>T , CM000666.1:g.4864582G>T | GRCh37 |
| NC_000004.10:g.4915483G>T | NCBI36 |
| NG_008121.1:g.8191G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.624G>T MANE Select | ENSP00000372170.4:p.Ser208= | |
| ENST00000382723.4:c.624G>T | ENSP00000372170.4:p.Ser208= | |
| ENST00000468421.1:n.336G>T | ||
| NM_002448.3:c.624G>T MANE Select | NP_002439.2:p.Ser208= |