Linked Data
ClinVar Variation Id:
476175
ClinVar RCV Id:
RCV000542129
dbSNP Id:
rs143091111
ExAC:
19:50216065 A / G
gnomAD v2:
19-50216065-A-G
gnomAD v3:
19-49712808-A-G
gnomAD v4:
19-49712808-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49712808A>G , CM000681.2:g.49712808A>G | GRCh38 |
| NC_000019.9:g.50216065A>G , CM000681.1:g.50216065A>G | GRCh37 |
| NC_000019.8:g.54907877A>G | NCBI36 |
| NG_050570.1:g.26931A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598293.6:c.2092A>G MANE Select | ENSP00000473028.1:p.Asn698Asp | |
| ENST00000323446.9:c.2092A>G | ENSP00000319343.4:p.Asn698Asp | |
| ENST00000392518.8:c.2092A>G | ENSP00000376303.4:p.Asn698Asp | |
| ENST00000405931.6:c.2059A>G | ENSP00000384465.2:p.Asn687Asp | |
| ENST00000595031.1:c.733-164A>G | ENSP00000472579.1:n.733-164A>G | |
| ENST00000595901.5:n.471A>G | ||
| ENST00000598072.1:n.90A>G | ||
| ENST00000598259.5:c.*2006A>G | ENSP00000472742.1:n.*2006A>G | |
| ENST00000598293.5:c.2092A>G | ENSP00000473028.1:p.Asn698Asp | |
| ENST00000598647.1:n.181A>G | ||
| ENST00000599937.5:n.254A>G | ||
| NM_001136052.2:c.2059A>G | NP_001129524.1:p.Asn687Asp | |
| NM_001199752.2:c.2092A>G | NP_001186681.1:p.Asn698Asp | |
| NM_001199753.1:c.2092A>G | NP_001186682.1:p.Asn698Asp | |
| NM_152359.2:c.2092A>G | NP_689572.1:p.Asn698Asp | |
| NR_108072.1:n.2570A>G | ||
| XM_005258505.2:c.2092A>G | XP_005258562.1:p.Asn698Asp | |
| XM_005258506.3:c.2092A>G | XP_005258563.1:p.Asn698Asp | |
| XM_006723009.2:c.1705A>G | XP_006723072.1:p.Asn569Asp | |
| XM_011526438.1:c.2092A>G | XP_011524740.1:p.Asn698Asp | |
| XM_011526439.1:c.2092A>G | XP_011524741.1:p.Asn698Asp | |
| XM_011526440.1:c.1957A>G | XP_011524742.1:p.Asn653Asp | |
| XM_005258506.4:c.2092A>G | XP_005258563.1:p.Asn698Asp | |
| XM_006723009.3:c.1705A>G | XP_006723072.1:p.Asn569Asp | |
| XM_011526440.3:c.1957A>G | XP_011524742.1:p.Asn653Asp | |
| XM_017026265.1:c.1957A>G | XP_016881754.1:p.Asn653Asp | |
| XM_017026266.2:c.1924A>G | XP_016881755.1:p.Asn642Asp | |
| XM_017026267.1:c.1606A>G | XP_016881756.1:p.Asn536Asp | |
| XM_017026268.1:c.1606A>G | XP_016881757.1:p.Asn536Asp | |
| XM_017026269.1:c.1606A>G | XP_016881758.1:p.Asn536Asp | |
| XM_017026271.1:c.1573A>G | XP_016881760.1:p.Asn525Asp | |
| XM_017026272.1:c.1471A>G | XP_016881761.1:p.Asn491Asp | |
| XM_017026273.1:c.1471A>G | XP_016881762.1:p.Asn491Asp | |
| XM_024451348.1:c.2191A>G | XP_024307116.1:p.Asn731Asp | |
| XM_024451349.1:c.2191A>G | XP_024307117.1:p.Asn731Asp | |
| XM_024451350.1:c.2191A>G | XP_024307118.1:p.Asn731Asp | |
| XM_024451351.1:c.2191A>G | XP_024307119.1:p.Asn731Asp | |
| XM_024451352.1:c.2191A>G | XP_024307120.1:p.Asn731Asp | |
| XM_024451353.1:c.2191A>G | XP_024307121.1:p.Asn731Asp | |
| XM_024451354.1:c.2191A>G | XP_024307122.1:p.Asn731Asp | |
| XM_024451355.1:c.2158A>G | XP_024307123.1:p.Asn720Asp | |
| XM_024451356.1:c.2056A>G | XP_024307124.1:p.Asn686Asp | |
| XM_024451357.1:c.1705A>G | XP_024307125.1:p.Asn569Asp | |
| XM_024451358.1:c.1705A>G | XP_024307126.1:p.Asn569Asp | |
| NR_108072.2:n.2562A>G | ||
| NM_001136052.3:c.2059A>G | NP_001129524.1:p.Asn687Asp | |
| NM_001199752.3:c.2092A>G | NP_001186681.1:p.Asn698Asp | |
| NM_001199753.2:c.2092A>G MANE Select | NP_001186682.1:p.Asn698Asp | |
| NM_001378482.1:c.2158A>G | NP_001365411.1:p.Asn720Asp | |
| NM_001378483.1:c.2092A>G | NP_001365412.1:p.Asn698Asp | |
| NM_001378484.1:c.2092A>G | NP_001365413.1:p.Asn698Asp | |
| NM_001378485.1:c.2059A>G | NP_001365414.1:p.Asn687Asp | |
| NM_001378486.1:c.1957A>G | NP_001365415.1:p.Asn653Asp | |
| NM_001378487.1:c.1924A>G | NP_001365416.1:p.Asn642Asp | |
| NM_001378488.1:c.1957A>G | NP_001365417.1:p.Asn653Asp | |
| NM_152359.3:c.2092A>G | NP_689572.1:p.Asn698Asp |