Linked Data
ClinVar Variation Id:
316007
dbSNP Id:
rs201674874
ExAC:
15:43489544 T / C
gnomAD v2:
15-43489544-T-C
gnomAD v3:
15-43197346-T-C
gnomAD v4:
15-43197346-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43197346T>C , CM000677.2:g.43197346T>C | GRCh38 |
| NC_000015.9:g.43489544T>C , CM000677.1:g.43489544T>C | GRCh37 |
| NC_000015.8:g.41276836T>C | NCBI36 |
| NG_011505.1:g.28780A>G | |
| NG_011505.2:g.33511A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441366.7:c.2032A>G MANE Select | ENSP00000396616.2:p.Asn678Asp | |
| ENST00000567019.2:n.1538A>G | ||
| ENST00000648595.1:c.2122A>G | ENSP00000497777.1:p.Asn708Asp | |
| ENST00000300215.7:c.2122A>G | ENSP00000300215.3:p.Asn708Asp | |
| ENST00000441366.6:c.2032A>G | ENSP00000396616.2:p.Asn678Asp | |
| ENST00000540029.5:c.1798A>G | ENSP00000444699.1:p.Asn600Asp | |
| ENST00000563128.5:n.447+4498A>G | ||
| ENST00000567019.1:n.1547A>G | ||
| ENST00000568508.5:c.1730A>G | ENSP00000457140.1:n.1730A>G | |
| ENST00000622454.4:c.1816A>G | ENSP00000481226.1:p.Asn606Asp | |
| NM_000119.2:c.2122A>G | NP_000110.2:p.Asn708Asp | |
| NM_001114134.1:c.2032A>G | NP_001107606.1:p.Asn678Asp | |
| XM_005254225.1:c.1927A>G | XP_005254282.1:p.Asn643Asp | |
| XM_011521349.1:c.2122A>G | XP_011519651.1:p.Asn708Asp | |
| XM_011521350.1:c.2122A>G | XP_011519652.1:p.Asn708Asp | |
| XM_011521351.1:c.2122A>G | XP_011519653.1:p.Asn708Asp | |
| XM_011521352.1:c.2086A>G | XP_011519654.1:p.Asn696Asp | |
| XM_011521353.1:c.2017A>G | XP_011519655.1:p.Asn673Asp | |
| XM_011521354.1:c.1567A>G | XP_011519656.1:p.Asn523Asp | |
| NM_000119.3:c.2122A>G | NP_000110.2:p.Asn708Asp | |
| XM_011521349.2:c.2122A>G | XP_011519651.1:p.Asn708Asp | |
| XM_011521350.2:c.2122A>G | XP_011519652.1:p.Asn708Asp | |
| XM_011521351.2:c.2122A>G | XP_011519653.1:p.Asn708Asp | |
| XM_011521352.2:c.2086A>G | XP_011519654.1:p.Asn696Asp | |
| XM_011521353.2:c.2017A>G | XP_011519655.1:p.Asn673Asp | |
| XM_011521354.2:c.1567A>G | XP_011519656.1:p.Asn523Asp | |
| NM_001114134.2:c.2032A>G MANE Select | NP_001107606.1:p.Asn678Asp |