Linked Data
ClinVar Variation Id:
890779
ClinVar RCV Id:
RCV001125627
dbSNP Id:
rs748006603
ExAC:
19:10472566 G / A
gnomAD v2:
19-10472566-G-A
gnomAD v3:
19-10361890-G-A
gnomAD v4:
19-10361890-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10361890G>A , CM000681.2:g.10361890G>A | GRCh38 |
| NC_000019.9:g.10472566G>A , CM000681.1:g.10472566G>A | GRCh37 |
| NC_000019.8:g.10333566G>A | NCBI36 |
| NG_007872.1:g.23683C>T , LRG_121:g.23683C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*188C>T | ENSP00000514307.1:n.*188C>T | |
| ENST00000525976.6:c.1839C>T | ENSP00000434831.2:p.Ser613= | |
| ENST00000527481.3:c.1839C>T | ENSP00000466340.2:p.Ser613= | |
| ENST00000529370.6:n.2170C>T | ||
| ENST00000529739.2:n.2253C>T | ||
| ENST00000530829.2:c.*1390C>T | ENSP00000436826.2:n.*1390C>T | |
| ENST00000531836.6:c.1839C>T | ENSP00000436175.2:p.Ser613= | |
| ENST00000533334.2:c.1839C>T | ENSP00000432320.2:p.Ser613= | |
| ENST00000534228.2:n.2253C>T | ||
| ENST00000699355.1:c.1774-54C>T | ENSP00000514328.1:n.1774-54C>T | |
| ENST00000699356.1:n.2253C>T | ||
| ENST00000699357.1:n.2253C>T | ||
| ENST00000699358.1:c.1839C>T | ENSP00000514329.1:p.Ser613= | |
| ENST00000699360.1:c.1839C>T | ENSP00000514331.1:p.Ser613= | |
| ENST00000525621.6:c.1839C>T MANE Select | ENSP00000431885.1:p.Ser613= | |
| ENST00000264818.10:c.1839C>T | ENSP00000264818.6:p.Ser613= | |
| ENST00000524462.5:c.1284C>T | ENSP00000433203.1:p.Ser428= | |
| ENST00000525621.5:c.1839C>T | ENSP00000431885.1:p.Ser613= | |
| ENST00000529370.5:c.1839C>T | ENSP00000432728.1:p.Ser613= | |
| ENST00000531620.1:n.172C>T | ||
| ENST00000533334.1:c.16C>T | ||
| NM_003331.4:c.1839C>T , LRG_121t1:c.1839C>T | NP_003322.3:p.Ser613= | |
| XM_011528245.1:c.1839C>T | XP_011526547.1:p.Ser613= | |
| XM_011528246.1:c.1542C>T | XP_011526548.1:p.Ser514= | |
| XM_011528247.1:c.1542C>T | XP_011526549.1:p.Ser514= | |
| XM_011528248.1:c.1839C>T | XP_011526550.1:p.Ser613= | |
| XM_011528249.1:c.513C>T | XP_011526551.1:p.Ser171= | |
| XM_011528250.1:c.1839C>T | XP_011526552.1:p.Ser613= | |
| XM_011528251.1:c.150-54C>T | XP_011526553.1:n.150-54C>T | |
| XM_011528252.1:c.1774-54C>T | XP_011526554.1:n.1774-54C>T | |
| XM_011528246.3:c.1542C>T | XP_011526548.1:p.Ser514= | |
| XM_011528249.2:c.513C>T | XP_011526551.1:p.Ser171= | |
| XR_001753750.1:n.1996C>T | ||
| XR_001753751.1:n.1996C>T | ||
| XR_001753752.1:n.1996C>T | ||
| XR_002958353.1:n.1931-54C>T | ||
| NM_003331.5:c.1839C>T MANE Select | NP_003322.3:p.Ser613= | |
| NM_001385197.1:c.1839C>T | NP_001372126.1:p.Ser613= | |
| NM_001385198.1:c.1839C>T | NP_001372127.1:p.Ser613= | |
| NM_001385199.1:c.1773+188C>T | NP_001372128.1:n.1773+188C>T | |
| NM_001385200.1:c.1839C>T | NP_001372129.1:p.Ser613= | |
| NM_001385201.1:c.1641C>T | NP_001372130.1:p.Ser547= | |
| NM_001385202.1:c.1808+31C>T | NP_001372131.1:n.1808+31C>T | |
| NM_001385203.1:c.1839C>T | NP_001372132.1:p.Ser613= | |
| NM_001385204.1:c.1839C>T | NP_001372133.1:p.Ser613= | |
| NM_001385205.1:c.1749C>T | NP_001372134.1:p.Ser583= | |
| NM_001385206.1:c.1713C>T | NP_001372135.1:p.Ser571= | |
| NM_001385207.1:c.1821C>T | NP_001372136.1:p.Ser607= |