Linked Data
ClinVar Variation Id:
1557001
ClinVar RCV Id:
RCV002194636
dbSNP Id:
rs374307939
ExAC:
1:229567998 G / A
gnomAD v2:
1-229567998-G-A
gnomAD v4:
1-229432251-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432251G>A , CM000663.2:g.229432251G>A | GRCh38 |
| NC_000001.10:g.229567998G>A , CM000663.1:g.229567998G>A | GRCh37 |
| NC_000001.9:g.227634621G>A | NCBI36 |
| NG_006672.1:g.6846C>T , LRG_429:g.6846C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.616+19C>T | ENSP00000355644.4:n.616+19C>T | |
| ENST00000684723.1:c.481+19C>T | ENSP00000508084.1:n.481+19C>T | |
| ENST00000366683.3:c.479+156C>T | ENSP00000355644.3:n.479+156C>T | |
| ENST00000366684.7:c.616+19C>T MANE Select | ENSP00000355645.3:n.616+19C>T | |
| NM_001100.3:c.616+19C>T , LRG_429t1:c.616+19C>T | NP_001091.1:n.616+19C>T | |
| NM_001100.4:c.616+19C>T MANE Select | NP_001091.1:n.616+19C>T |