Linked Data
ClinVar Variation Id:
291619
ClinVar RCV Id:
RCV000315959
dbSNP Id:
rs1002076
gnomAD v2:
1-10438892-G-A
gnomAD v3:
1-10378834-G-A
gnomAD v4:
1-10378834-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10378834G>A , CM000663.2:g.10378834G>A | GRCh38 |
| NC_000001.10:g.10438892G>A , CM000663.1:g.10438892G>A | GRCh37 |
| NC_000001.9:g.10361479G>A | NCBI36 |
| NG_008069.1:g.173129G>A , LRG_252:g.173129G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000676179.1:c.*2247G>A MANE Select | ENSP00000502065.1:n.*2247G>A | |
| ENST00000377081.5:c.*432G>A | ENSP00000366284.1:n.*432G>A | |
| ENST00000377086.5:c.*2247G>A | ENSP00000366290.1:n.*2247G>A | |
| ENST00000620295.2:c.5862G>A | ENSP00000478500.1:n.5862G>A | |
| ENST00000622724.3:c.5826G>A | ENSP00000480063.1:n.5826G>A | |
| NM_015074.3:c.*2247G>A , LRG_252t1:c.*2247G>A | NP_055889.2:n.*2247G>A | |
| NM_001365951.1:c.*2247G>A | NP_001352880.1:n.*2247G>A | |
| NM_001365952.1:c.*2247G>A | NP_001352881.1:n.*2247G>A | |
| NM_001365951.3:c.*2247G>A MANE Select | NP_001352880.1:n.*2247G>A |