Linked Data
ClinVar Variation Id:
237688
ClinVar RCV Id:
RCV000229820
dbSNP Id:
rs878853954
gnomAD v2:
19-55668414-C-A
gnomAD v3:
19-55157046-C-A
gnomAD v4:
19-55157046-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157046C>A , CM000681.2:g.55157046C>A | GRCh38 |
| NC_000019.9:g.55668414C>A , CM000681.1:g.55668414C>A | GRCh37 |
| NC_000019.8:g.60360226C>A | NCBI36 |
| NG_007866.2:g.5687G>T , LRG_432:g.5687G>T | |
| NG_032759.1:g.14677G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.108+4G>T MANE Select | ENSP00000341838.5:n.108+4G>T | |
| ENST00000665070.1:c.108+4G>T | ENSP00000499482.1:n.108+4G>T | |
| ENST00000344887.9:c.108+4G>T | ENSP00000341838.5:n.108+4G>T | |
| ENST00000586446.1:n.254G>T | ||
| ENST00000586669.5:n.116+4G>T | ||
| ENST00000587176.5:n.292+4G>T | ||
| ENST00000587871.1:c.727+4G>T | ||
| ENST00000590463.1:n.280+4G>T | ||
| NM_000363.4:c.108+4G>T , LRG_432t1:c.108+4G>T | NP_000354.4:n.108+4G>T | |
| NM_000363.5:c.108+4G>T MANE Select | NP_000354.4:n.108+4G>T |