Linked Data
ClinVar Variation Id:
2044966
ClinVar RCV Id:
RCV002917821
dbSNP Id:
rs928344880
gnomAD v2:
5-148388576-A-T
gnomAD v3:
5-149009013-A-T
gnomAD v4:
5-149009013-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149009013A>T , CM000667.2:g.149009013A>T | GRCh38 |
| NC_000005.9:g.148388576A>T , CM000667.1:g.148388576A>T | GRCh37 |
| NC_000005.8:g.148368769A>T | NCBI36 |
| NG_007947.2:g.59162T>A , LRG_269:g.59162T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.3224-12T>A | ||
| ENST00000515425.6:c.3328-12T>A MANE Select | ENSP00000423660.1:n.3328-12T>A | |
| ENST00000675793.1:c.*2612-12T>A | ENSP00000502039.1:n.*2612-12T>A | |
| ENST00000323829.9:c.*2716-12T>A | ENSP00000313025.5:n.*2716-12T>A | |
| ENST00000504517.5:c.2858-12T>A | ENSP00000421779.1:n.2858-12T>A | |
| ENST00000504690.5:c.3328-12T>A | ENSP00000425627.1:n.3328-12T>A | |
| ENST00000510779.1:c.2378-12T>A | ||
| ENST00000512049.5:c.3307-12T>A | ENSP00000421860.1:n.3307-12T>A | |
| ENST00000515425.5:c.3328-12T>A | ENSP00000423660.1:n.3328-12T>A | |
| NM_024577.3:c.3328-12T>A , LRG_269t1:c.3328-12T>A | NP_078853.2:n.3328-12T>A | |
| NM_024577.4:c.3328-12T>A MANE Select | NP_078853.2:n.3328-12T>A |