Linked Data
ClinVar Variation Id:
538103
ClinVar RCV Id:
RCV002422359
dbSNP Id:
rs746156652
ExAC:
15:73616461 C / T
gnomAD v2:
15-73616461-C-T
gnomAD v3:
15-73324120-C-T
gnomAD v4:
15-73324120-C-T
COSMIC:
COSM5603730
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73324120C>T , CM000677.2:g.73324120C>T | GRCh38 |
| NC_000015.9:g.73616461C>T , CM000677.1:g.73616461C>T | GRCh37 |
| NC_000015.8:g.71403514C>T | NCBI36 |
| NG_009063.1:g.50145G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.2112G>A MANE Select | ENSP00000261917.3:p.Glu704= | |
| ENST00000261917.3:c.2112G>A | ENSP00000261917.3:p.Glu704= | |
| NM_005477.2:c.2112G>A | NP_005468.1:p.Glu704= | |
| XM_011521148.1:c.894G>A | XP_011519450.1:p.Glu298= | |
| XM_011521148.2:c.894G>A | XP_011519450.1:p.Glu298= | |
| NM_005477.3:c.2112G>A MANE Select | NP_005468.1:p.Glu704= |