Linked Data
ClinVar Variation Id:
1500310
ClinVar RCV Id:
RCV002015547
dbSNP Id:
rs757331566
ExAC:
5:33984498 C / T
gnomAD v2:
5-33984498-C-T
gnomAD v3:
5-33984393-C-T
gnomAD v4:
5-33984393-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33984393C>T , CM000667.2:g.33984393C>T | GRCh38 |
| NC_000005.9:g.33984498C>T , CM000667.1:g.33984498C>T | GRCh37 |
| NC_000005.8:g.34020255C>T | NCBI36 |
| NG_011691.2:g.5283G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.191G>A MANE Select | ENSP00000296589.4:p.Gly64Asp | |
| ENST00000296589.8:c.191G>A | ENSP00000296589.4:p.Gly64Asp | |
| ENST00000382102.7:c.191G>A | ENSP00000371534.3:p.Gly64Asp | |
| ENST00000505056.1:n.170G>A | ||
| ENST00000509381.1:c.191G>A | ENSP00000421100.1:p.Gly64Asp | |
| NM_001012509.3:c.191G>A | NP_001012527.1:p.Gly64Asp | |
| NM_001297417.2:c.191G>A | NP_001284346.2:p.Gly64Asp | |
| NM_016180.4:c.191G>A | NP_057264.3:p.Gly64Asp | |
| XM_011514052.1:c.191G>A | XP_011512354.1:p.Gly64Asp | |
| XR_925620.1:n.752G>A | ||
| NM_016180.5:c.191G>A MANE Select | NP_057264.4:p.Gly64Asp | |
| NM_001012509.4:c.191G>A | NP_001012527.2:p.Gly64Asp | |
| NM_001297417.3:c.191G>A | NP_001284346.2:p.Gly64Asp | |
| NM_001297417.4:c.191G>A | NP_001284346.2:p.Gly64Asp |