Linked Data
ClinVar Variation Id:
496760
ClinVar RCV Id:
RCV000599299
dbSNP Id:
rs1555498581
gnomAD v4:
16-58017440-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58017440G>A , CM000678.2:g.58017440G>A | GRCh38 |
| NC_000016.9:g.58051344G>A , CM000678.1:g.58051344G>A | GRCh37 |
| NC_000016.8:g.56608845G>A | NCBI36 |
| NG_027698.1:g.21068G>A , LRG_352:g.21068G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561568.6:c.570+1G>A | ENSP00000457322.2:n.570+1G>A | |
| ENST00000565662.6:c.*88+1G>A | ENSP00000513729.1:n.*88+1G>A | |
| ENST00000698444.1:c.456+1G>A | ENSP00000513726.1:n.456+1G>A | |
| ENST00000698445.1:c.504-1532G>A | ENSP00000513727.1:n.504-1532G>A | |
| ENST00000698446.1:c.*300+1G>A | ENSP00000513728.1:n.*300+1G>A | |
| ENST00000698447.1:c.*266+1G>A | ENSP00000513732.1:n.*266+1G>A | |
| ENST00000219281.8:c.609+1G>A MANE Select | ENSP00000219281.3:n.609+1G>A | |
| ENST00000219281.7:c.609+1G>A | ENSP00000219281.3:n.609+1G>A | |
| ENST00000539737.6:c.555+1G>A | ENSP00000446143.2:n.555+1G>A | |
| ENST00000561743.5:c.456+1G>A | ENSP00000454928.1:n.456+1G>A | |
| ENST00000562534.5:n.562G>A | ||
| ENST00000565151.1:n.804+1G>A | ||
| ENST00000565662.5:n.654+1G>A | ||
| ENST00000566082.1:n.2327+1G>A | ||
| NM_001195302.1:c.555+1G>A | NP_001182231.1:n.555+1G>A | |
| NM_024598.3:c.609+1G>A , LRG_352t1:c.609+1G>A | NP_078874.2:n.609+1G>A | |
| XM_005256144.3:c.456+1G>A | XP_005256201.1:n.456+1G>A | |
| XM_011523328.1:c.570+1G>A | XP_011521630.1:n.570+1G>A | |
| XM_011523329.1:c.456+1G>A | XP_011521631.1:n.456+1G>A | |
| NM_001330568.1:c.456+1G>A | NP_001317497.1:n.456+1G>A | |
| NM_001195302.2:c.555+1G>A | NP_001182231.1:n.555+1G>A | |
| NM_001330568.2:c.456+1G>A | NP_001317497.1:n.456+1G>A | |
| NM_024598.4:c.609+1G>A MANE Select | NP_078874.2:n.609+1G>A |