Linked Data
ClinVar Variation Id:
257313
dbSNP Id:
rs372686071
ExAC:
2:202492057 T / C
gnomAD v2:
2-202492057-T-C
gnomAD v3:
2-201627334-T-C
gnomAD v4:
2-201627334-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201627334T>C , CM000664.2:g.201627334T>C | GRCh38 |
| NC_000002.11:g.202492057T>C , CM000664.1:g.202492057T>C | GRCh37 |
| NC_000002.10:g.202200302T>C | NCBI36 |
| NG_032049.1:g.21196A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471318.6:n.833+742A>G | ||
| ENST00000621467.5:c.898A>G | ENSP00000480508.2:p.Asn300Asp | |
| ENST00000686475.1:n.964A>G | ||
| ENST00000409883.7:c.1024A>G MANE Select | ENSP00000386264.2:p.Asn342Asp | |
| ENST00000286196.9:c.*588A>G | ENSP00000286196.5:n.*588A>G | |
| ENST00000409444.6:c.1000A>G | ENSP00000387203.2:p.Asn334Asp | |
| ENST00000409883.6:c.1024A>G | ENSP00000386264.2:p.Asn342Asp | |
| ENST00000471318.5:n.265+742A>G | ||
| ENST00000621467.4:c.1000A>G | ENSP00000480508.1:p.Asn334Asp | |
| NM_001044385.2:c.1024A>G | NP_001037850.1:p.Asn342Asp | |
| NM_152388.3:c.1000A>G | NP_689601.2:p.Asn334Asp | |
| NM_001044385.3:c.1024A>G MANE Select | NP_001037850.1:p.Asn342Asp | |
| NM_152388.4:c.1000A>G | NP_689601.2:p.Asn334Asp |