Linked Data
ClinVar Variation Id:
2002018
ClinVar RCV Id:
RCV002820076
dbSNP Id:
rs1963760182
gnomAD v4:
15-67209477-A-G
MyVariant Identifiers:
chr15:g.67501815A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67209477A>G , CM000677.2:g.67209477A>G | GRCh38 |
| NC_000015.9:g.67501815A>G , CM000677.1:g.67501815A>G | GRCh37 |
| NC_000015.8:g.65288869A>G | NCBI36 |
| NG_033007.1:g.50722T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261880.10:c.603T>C MANE Select | ENSP00000261880.5:p.Asp201= | |
| ENST00000261880.9:c.603T>C | ENSP00000261880.5:p.Asp201= | |
| ENST00000538028.1:n.284T>C | ||
| ENST00000542650.5:c.276T>C | ENSP00000440735.1:p.Asp92= | |
| ENST00000561452.5:c.276T>C | ENSP00000453263.1:p.Asp92= | |
| NM_001271885.1:c.276T>C | NP_001258814.1:p.Asp92= | |
| NM_001271886.1:c.276T>C | NP_001258815.1:p.Asp92= | |
| NM_024666.4:c.603T>C | NP_078942.3:p.Asp201= | |
| XM_005254664.2:c.*85T>C | XP_005254721.1:n.*85T>C | |
| XM_006720683.2:c.*68T>C | XP_006720746.1:n.*68T>C | |
| XM_011522020.1:c.276T>C | XP_011520322.1:p.Asp92= | |
| NM_024666.5:c.603T>C MANE Select | NP_078942.3:p.Asp201= | |
| NM_001271885.2:c.276T>C | NP_001258814.1:p.Asp92= | |
| NM_001271886.2:c.276T>C | NP_001258815.1:p.Asp92= |