Linked Data
ClinVar Variation Id:
291617
dbSNP Id:
rs190108168
gnomAD v2:
1-10438677-T-A
gnomAD v3:
1-10378619-T-A
gnomAD v4:
1-10378619-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10378619T>A , CM000663.2:g.10378619T>A | GRCh38 |
| NC_000001.10:g.10438677T>A , CM000663.1:g.10438677T>A | GRCh37 |
| NC_000001.9:g.10361264T>A | NCBI36 |
| NG_008069.1:g.172914T>A , LRG_252:g.172914T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676179.1:c.*2032T>A MANE Select | ENSP00000502065.1:n.*2032T>A | |
| ENST00000377081.5:c.*217T>A | ENSP00000366284.1:n.*217T>A | |
| ENST00000377086.5:c.*2032T>A | ENSP00000366290.1:n.*2032T>A | |
| ENST00000620295.2:c.5647T>A | ENSP00000478500.1:n.5647T>A | |
| ENST00000622724.3:c.5611T>A | ENSP00000480063.1:n.5611T>A | |
| NM_015074.3:c.*2032T>A , LRG_252t1:c.*2032T>A | NP_055889.2:n.*2032T>A | |
| NM_001365951.1:c.*2032T>A | NP_001352880.1:n.*2032T>A | |
| NM_001365952.1:c.*2032T>A | NP_001352881.1:n.*2032T>A | |
| NM_001365951.3:c.*2032T>A MANE Select | NP_001352880.1:n.*2032T>A |