Linked Data
ClinVar Variation Id:
2949
dbSNP Id:
rs104894633
gnomAD v2:
17-17701685-G-A
gnomAD v4:
17-17798371-G-A
PubMed:
PMID:15788730
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17798371G>A , CM000679.2:g.17798371G>A | GRCh38 |
| NC_000017.10:g.17701685G>A , CM000679.1:g.17701685G>A | GRCh37 |
| NC_000017.9:g.17642410G>A | NCBI36 |
| NG_007101.2:g.121899G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000353383.6:c.5423G>A MANE Select | ENSP00000323074.4:p.Ser1808Asn | |
| ENST00000640861.1:c.5068+19G>A | ENSP00000491773.1:n.5068+19G>A | |
| ENST00000353383.5:c.5423G>A | ENSP00000323074.4:p.Ser1808Asn | |
| NM_030665.3:c.5423G>A | NP_109590.3:p.Ser1808Asn | |
| XM_017024025.1:c.5423G>A | XP_016879514.1:p.Ser1808Asn | |
| XM_017024026.1:c.5423G>A | XP_016879515.1:p.Ser1808Asn | |
| XM_017024027.1:c.5423G>A | XP_016879516.1:p.Ser1808Asn | |
| XM_017024028.2:c.5423G>A | XP_016879517.1:p.Ser1808Asn | |
| NM_030665.4:c.5423G>A MANE Select | NP_109590.3:p.Ser1808Asn |