Linked Data
ClinVar Variation Id:
56751
dbSNP Id:
rs386834170
gnomAD v2:
14-103394761-A-G
gnomAD v3:
14-102928424-A-G
gnomAD v4:
14-102928424-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102928424A>G , CM000676.2:g.102928424A>G | GRCh38 |
| NC_000014.8:g.103394761A>G , CM000676.1:g.103394761A>G | GRCh37 |
| NC_000014.7:g.102464514A>G | NCBI36 |
| NG_008276.2:g.10769A>G , LRG_642:g.10769A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299155.10:c.208-2A>G MANE Select | ENSP00000299155.6:n.208-2A>G | |
| ENST00000299155.9:c.208-2A>G | ENSP00000299155.5:n.208-2A>G | |
| ENST00000541086.5:n.954-2A>G | ||
| NM_030943.3:c.208-2A>G , LRG_642t1:c.208-2A>G | NP_112205.2:n.208-2A>G | |
| XM_011537202.1:c.46-2A>G | XP_011535504.1:n.46-2A>G | |
| XM_011537203.1:c.46-2A>G | XP_011535505.1:n.46-2A>G | |
| XM_011537202.3:c.46-2A>G | XP_011535504.1:n.46-2A>G | |
| XM_011537203.3:c.46-2A>G | XP_011535505.1:n.46-2A>G | |
| XM_024449714.1:c.304-2A>G | XP_024305482.1:n.304-2A>G | |
| NM_030943.4:c.208-2A>G MANE Select | NP_112205.2:n.208-2A>G |