Linked Data
ClinVar Variation Id:
203367
dbSNP Id:
rs147936696
ExAC:
10:124797364 G / A
gnomAD v2:
10-124797364-G-A
gnomAD v3:
10-123037848-G-A
gnomAD v4:
10-123037848-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123037848G>A , CM000672.2:g.123037848G>A | GRCh38 |
| NC_000010.10:g.124797364G>A , CM000672.1:g.124797364G>A | GRCh37 |
| NC_000010.9:g.124787354G>A | NCBI36 |
| NG_008003.1:g.33936G>A , LRG_451:g.33936G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358776.7:c.303+1G>A MANE Select | ENSP00000357873.3:n.303+1G>A | |
| ENST00000358776.6:c.303+1G>A | ENSP00000357873.3:n.303+1G>A | |
| ENST00000368869.8:c.-3-2618G>A | ENSP00000357862.4:n.-3-2618G>A | |
| ENST00000411816.2:n.320+1G>A | ||
| NM_001609.3:c.303+1G>A , LRG_451t1:c.303+1G>A | NP_001600.1:n.303+1G>A | |
| NM_001330174.1:c.-3-2618G>A | NP_001317103.1:n.-3-2618G>A | |
| NM_001330174.2:c.-3-2618G>A | NP_001317103.1:n.-3-2618G>A | |
| NM_001609.4:c.303+1G>A MANE Select | NP_001600.1:n.303+1G>A | |
| NM_001330174.3:c.-3-2618G>A | NP_001317103.1:n.-3-2618G>A |