Linked Data
ClinVar Variation Id:
327935
ClinVar RCV Id:
RCV000902163
dbSNP Id:
rs147442318
ExAC:
19:10464246 G / A
gnomAD v2:
19-10464246-G-A
gnomAD v3:
19-10353570-G-A
gnomAD v4:
19-10353570-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10353570G>A , CM000681.2:g.10353570G>A | GRCh38 |
| NC_000019.9:g.10464246G>A , CM000681.1:g.10464246G>A | GRCh37 |
| NC_000019.8:g.10325246G>A | NCBI36 |
| NG_007872.1:g.32003C>T , LRG_121:g.32003C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524470.2:c.*1334C>T | ENSP00000514307.1:n.*1334C>T | |
| ENST00000525976.6:c.2985C>T | ENSP00000434831.2:p.Ile995= | |
| ENST00000527481.3:c.2909-472C>T | ENSP00000466340.2:n.2909-472C>T | |
| ENST00000529370.6:n.4361C>T | ||
| ENST00000529739.2:n.3794C>T | ||
| ENST00000530829.2:c.*2536C>T | ENSP00000436826.2:n.*2536C>T | |
| ENST00000531836.6:c.2985C>T | ENSP00000436175.2:p.Ile995= | |
| ENST00000533334.2:c.*1027C>T | ENSP00000432320.2:n.*1027C>T | |
| ENST00000534228.2:n.4839C>T | ||
| ENST00000699354.1:n.1087C>T | ||
| ENST00000699355.1:c.*2485C>T | ENSP00000514328.1:n.*2485C>T | |
| ENST00000699356.1:n.3794C>T | ||
| ENST00000699357.1:n.4839C>T | ||
| ENST00000699358.1:c.2985C>T | ENSP00000514329.1:p.Ile995= | |
| ENST00000699359.1:c.191C>T | ||
| ENST00000699360.1:c.2985C>T | ENSP00000514331.1:p.Ile995= | |
| ENST00000699362.1:c.54C>T | ENSP00000514332.1:p.Ile18= | |
| ENST00000699363.1:c.54C>T | ENSP00000514333.1:p.Ile18= | |
| ENST00000699364.1:n.27+244C>T | ||
| ENST00000699365.1:c.54C>T | ENSP00000514334.1:p.Ile18= | |
| ENST00000699366.1:n.111+244C>T | ||
| ENST00000699367.1:n.111+244C>T | ||
| ENST00000699368.1:c.472C>T | ENSP00000514335.1:n.472C>T | |
| ENST00000525621.6:c.2985C>T MANE Select | ENSP00000431885.1:p.Ile995= | |
| ENST00000264818.10:c.2985C>T | ENSP00000264818.6:p.Ile995= | |
| ENST00000524462.5:c.2430C>T | ENSP00000433203.1:p.Ile810= | |
| ENST00000525621.5:c.2985C>T | ENSP00000431885.1:p.Ile995= | |
| ENST00000527481.2:c.205-472C>T | ||
| ENST00000529739.1:c.54C>T | ENSP00000436155.1:p.Ile18= | |
| ENST00000530560.5:c.337+472C>T | ENSP00000465291.1:n.337+472C>T | |
| ENST00000592137.1:n.139C>T | ||
| NM_003331.4:c.2985C>T , LRG_121t1:c.2985C>T | NP_003322.3:p.Ile995= | |
| XM_011528245.1:c.2985C>T | XP_011526547.1:p.Ile995= | |
| XM_011528246.1:c.2688C>T | XP_011526548.1:p.Ile896= | |
| XM_011528247.1:c.2688C>T | XP_011526549.1:p.Ile896= | |
| XM_011528248.1:c.2985C>T | XP_011526550.1:p.Ile995= | |
| XM_011528249.1:c.1659C>T | XP_011526551.1:p.Ile553= | |
| XM_011528251.1:c.1242C>T | XP_011526553.1:p.Ile414= | |
| XM_011528246.3:c.2688C>T | XP_011526548.1:p.Ile896= | |
| XM_011528249.2:c.1659C>T | XP_011526551.1:p.Ile553= | |
| XR_001753750.1:n.3142C>T | ||
| XR_001753751.1:n.3537C>T | ||
| XR_002958353.1:n.4463C>T | ||
| NM_003331.5:c.2985C>T MANE Select | NP_003322.3:p.Ile995= | |
| NM_001385197.1:c.2985C>T | NP_001372126.1:p.Ile995= | |
| NM_001385198.1:c.2985C>T | NP_001372127.1:p.Ile995= | |
| NM_001385199.1:c.2799C>T | NP_001372128.1:p.Ile933= | |
| NM_001385200.1:c.2982C>T | NP_001372129.1:p.Ile994= | |
| NM_001385201.1:c.2787C>T | NP_001372130.1:p.Ile929= | |
| NM_001385202.1:c.2901C>T | NP_001372131.1:p.Ile967= | |
| NM_001385203.1:c.3066C>T | NP_001372132.1:p.Ile1022= | |
| NM_001385204.1:c.3195C>T | NP_001372133.1:p.Ile1065= | |
| NM_001385205.1:c.2895C>T | NP_001372134.1:p.Ile965= | |
| NM_001385206.1:c.2859C>T | NP_001372135.1:p.Ile953= | |
| NM_001385207.1:c.2967C>T | NP_001372136.1:p.Ile989= |