Linked Data
ClinVar Variation Id:
2545977
ClinVar RCV Id:
RCV004321009
dbSNP Id:
rs149630676
ExAC:
4:69536191 C / T
gnomAD v2:
4-69536191-C-T
gnomAD v3:
4-68670473-C-T
gnomAD v4:
4-68670473-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670473C>T , CM000666.2:g.68670473C>T | GRCh38 |
| NC_000004.11:g.69536191C>T , CM000666.1:g.69536191C>T | GRCh37 |
| NC_000004.10:g.69218786C>T | NCBI36 |
| NG_052676.1:g.5304G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.146G>A MANE Select | ENSP00000341045.5:p.Arg49Lys | |
| ENST00000338206.5:c.146G>A | ENSP00000341045.5:p.Arg49Lys | |
| ENST00000616841.4:c.146G>A | ENSP00000482004.1:p.Arg49Lys | |
| NM_001076.3:c.146G>A | NP_001067.2:p.Arg49Lys | |
| NM_001076.4:c.146G>A MANE Select | NP_001067.2:p.Arg49Lys |