Linked Data
ClinVar Variation Id:
519840
ClinVar RCV Id:
RCV002313321
dbSNP Id:
rs565550310
ExAC:
5:127800487 C / T
gnomAD v2:
5-127800487-C-T
gnomAD v3:
5-128464794-C-T
gnomAD v4:
5-128464794-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128464794C>T , CM000667.2:g.128464794C>T | GRCh38 |
| NC_000005.9:g.127800487C>T , CM000667.1:g.127800487C>T | GRCh37 |
| NC_000005.8:g.127828386C>T | NCBI36 |
| NG_008750.1:g.78249G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000508053.6:c.756G>A | ENSP00000424571.2:p.Glu252= | |
| ENST00000703787.1:n.463G>A | ||
| ENST00000262464.9:c.756G>A MANE Select | ENSP00000262464.4:p.Glu252= | |
| ENST00000262464.8:c.756G>A | ENSP00000262464.4:p.Glu252= | |
| ENST00000502468.5:c.756G>A | ENSP00000424753.1:p.Glu252= | |
| ENST00000508053.5:c.756G>A | ENSP00000424571.1:p.Glu252= | |
| ENST00000508989.5:c.657G>A | ENSP00000425596.1:p.Glu219= | |
| ENST00000514742.1:n.1376G>A | ||
| ENST00000619499.4:c.753G>A | ENSP00000482132.1:p.Glu251= | |
| ENST00000620257.1:c.756G>A | ENSP00000479157.1:p.Glu252= | |
| NM_001999.3:c.756G>A | NP_001990.2:p.Glu252= | |
| XM_017009228.2:c.756G>A | XP_016864717.1:p.Glu252= | |
| NM_001999.4:c.756G>A MANE Select | NP_001990.2:p.Glu252= |