Linked Data
ClinVar Variation Id:
302644
ClinVar RCV Id:
RCV000346942
dbSNP Id:
rs886047730
gnomAD v2:
11-118007484-A-T
gnomAD v3:
11-118136769-A-T
gnomAD v4:
11-118136769-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118136769A>T , CM000673.2:g.118136769A>T | GRCh38 |
| NC_000011.9:g.118007484A>T , CM000673.1:g.118007484A>T | GRCh37 |
| NC_000011.8:g.117512694A>T | NCBI36 |
| NG_011710.1:g.21147T>A , LRG_330:g.21147T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.*258T>A MANE Select | ENSP00000322460.4:n.*258T>A | |
| ENST00000324727.8:c.*258T>A | ENSP00000322460.4:n.*258T>A | |
| ENST00000415030.6:n.1088T>A | ||
| ENST00000423160.2:n.579T>A | ||
| ENST00000531550.1:n.1010T>A | ||
| NM_001142348.1:c.*258T>A | NP_001135820.1:n.*258T>A | |
| NM_001142349.1:c.*258T>A | NP_001135821.1:n.*258T>A | |
| NM_174934.3:c.*258T>A , LRG_330t1:c.*258T>A | NP_777594.1:n.*258T>A | |
| NR_024527.1:n.970T>A | ||
| NM_001142348.2:c.*258T>A | NP_001135820.1:n.*258T>A | |
| NM_001142349.2:c.*258T>A | NP_001135821.1:n.*258T>A | |
| NR_024527.2:n.934T>A | ||
| NM_174934.4:c.*258T>A MANE Select | NP_777594.1:n.*258T>A |