Linked Data
ClinVar Variation Id:
200872
ClinVar RCV Id:
RCV000477502
dbSNP Id:
rs794728549
gnomAD v4:
11-2527923-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2527923T>A , CM000673.2:g.2527923T>A | GRCh38 |
| NC_000011.9:g.2549153T>A , CM000673.1:g.2549153T>A | GRCh37 |
| NC_000011.8:g.2505729T>A | NCBI36 |
| NG_008935.1:g.87933T>A , LRG_287:g.87933T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380776.5:n.184-5T>A | ||
| ENST00000496887.7:c.126-5T>A | ENSP00000434560.2:n.126-5T>A | |
| ENST00000646564.2:c.387-5T>A | ENSP00000495806.2:n.387-5T>A | |
| ENST00000155840.12:c.387-5T>A MANE Select | ENSP00000155840.2:n.387-5T>A | |
| ENST00000335475.6:c.6-5T>A | ENSP00000334497.5:n.6-5T>A | |
| ENST00000646564.1:c.33-5T>A | ENSP00000495806.1:n.33-5T>A | |
| ENST00000155840.9:c.387-5T>A | ENSP00000155840.2:n.387-5T>A | |
| ENST00000335475.5:c.6-5T>A | ENSP00000334497.5:n.6-5T>A | |
| ENST00000345015.4:n.256-5T>A | ||
| ENST00000380776.4:c.177-5T>A | ENSP00000370153.4:n.177-5T>A | |
| ENST00000496887.6:c.126-5T>A | ENSP00000434560.1:n.126-5T>A | |
| NM_000218.2:c.387-5T>A , LRG_287t1:c.387-5T>A | NP_000209.2:n.387-5T>A | |
| NM_181798.1:c.6-5T>A , LRG_287t2:c.6-5T>A | NP_861463.1:n.6-5T>A | |
| NM_000218.3:c.387-5T>A MANE Select | NP_000209.2:n.387-5T>A |