Linked Data
ClinVar Variation Id:
1644552
ClinVar RCV Id:
RCV002146160
dbSNP Id:
rs1911033298
gnomAD v4:
17-1651166-G-A
MyVariant Identifiers:
chr17:g.1554460G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1651166G>A , CM000679.2:g.1651166G>A | GRCh38 |
| NC_000017.10:g.1554460G>A , CM000679.1:g.1554460G>A | GRCh37 |
| NC_000017.9:g.1501210G>A | NCBI36 |
| NG_009118.1:g.38717C>T | |
| NG_033061.1:g.3933C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6615C>T | ENSP00000460849.2:p.Asp2205= | |
| ENST00000703537.1:c.2543C>T | ||
| ENST00000703538.1:c.*6518C>T | ENSP00000515361.1:n.*6518C>T | |
| ENST00000703539.1:n.3109C>T | ||
| ENST00000703540.1:c.6648C>T | ENSP00000515362.1:p.Asp2216= | |
| ENST00000703541.1:c.6660C>T | ENSP00000515363.1:p.Asp2220= | |
| ENST00000304992.11:c.6795C>T MANE Select | ENSP00000304350.6:p.Asp2265= | |
| ENST00000304992.10:c.6795C>T | ENSP00000304350.6:p.Asp2265= | |
| ENST00000571958.1:c.104C>T | ||
| ENST00000572621.5:c.6795C>T | ENSP00000460348.1:p.Asp2265= | |
| ENST00000572723.1:n.784C>T | ||
| NM_006445.3:c.6795C>T | NP_006436.3:p.Asp2265= | |
| XM_024450537.1:c.6795C>T | XP_024306305.1:p.Asp2265= | |
| NM_006445.4:c.6795C>T MANE Select | NP_006436.3:p.Asp2265= |