Linked Data
ClinVar Variation Id:
337700
dbSNP Id:
rs140884406
gnomAD v2:
20-10394511-T-C
gnomAD v3:
20-10413863-T-C
gnomAD v4:
20-10413863-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10413863T>C , CM000682.2:g.10413863T>C | GRCh38 |
| NC_000020.10:g.10394511T>C , CM000682.1:g.10394511T>C | GRCh37 |
| NC_000020.9:g.10342511T>C | NCBI36 |
| NG_009109.1:g.25356A>G | |
| NG_009109.2:g.25356A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649912.2:c.*87A>G | ENSP00000497510.1:n.*87A>G | |
| ENST00000713549.1:c.25A>G | ENSP00000518845.1:p.Lys9Glu | |
| ENST00000651692.1:c.-349A>G | ENSP00000498849.1:n.-349A>G | |
| ENST00000652676.1:n.391A>G | ||
| ENST00000347364.7:c.-349A>G MANE Select | ENSP00000246062.4:n.-349A>G | |
| ENST00000399054.6:c.-349A>G | ENSP00000382008.2:n.-349A>G | |
| ENST00000609375.1:c.*87A>G | ENSP00000477297.1:n.*87A>G | |
| NM_018848.3:c.-349A>G | NP_061336.1:n.-349A>G | |
| NM_170784.2:c.-349A>G | NP_740754.1:n.-349A>G | |
| NR_072977.1:n.364-5060A>G | ||
| NR_072977.2:n.347-5060A>G | ||
| NM_001394148.1:c.*87A>G | NP_001381077.1:n.*87A>G | |
| NM_001394149.1:c.25A>G | NP_001381078.1:p.Lys9Glu | |
| NM_170784.3:c.-349A>G MANE Select | NP_740754.1:n.-349A>G |