Linked Data
ClinVar Variation Id:
2710719
ClinVar RCV Id:
RCV003515658
MyVariant Identifiers:
chr19:g.10467344T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10356668T>C , CM000681.2:g.10356668T>C | GRCh38 |
| NC_000019.9:g.10467344T>C , CM000681.1:g.10467344T>C | GRCh37 |
| NC_000019.8:g.10328344T>C | NCBI36 |
| NG_007872.1:g.28905A>G , LRG_121:g.28905A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*866A>G | ENSP00000514307.1:n.*866A>G | |
| ENST00000525976.6:c.2517A>G | ENSP00000434831.2:p.Pro839= | |
| ENST00000527481.3:c.2517A>G | ENSP00000466340.2:p.Pro839= | |
| ENST00000529370.6:n.3893A>G | ||
| ENST00000529739.2:n.2931A>G | ||
| ENST00000530829.2:c.*2068A>G | ENSP00000436826.2:n.*2068A>G | |
| ENST00000531836.6:c.2517A>G | ENSP00000436175.2:p.Pro839= | |
| ENST00000533334.2:c.*559A>G | ENSP00000432320.2:n.*559A>G | |
| ENST00000534228.2:n.3976A>G | ||
| ENST00000699354.1:n.619A>G | ||
| ENST00000699355.1:c.*1622A>G | ENSP00000514328.1:n.*1622A>G | |
| ENST00000699356.1:n.2931A>G | ||
| ENST00000699357.1:n.3976A>G | ||
| ENST00000699358.1:c.2517A>G | ENSP00000514329.1:p.Pro839= | |
| ENST00000699360.1:c.2517A>G | ENSP00000514331.1:p.Pro839= | |
| ENST00000525621.6:c.2517A>G MANE Select | ENSP00000431885.1:p.Pro839= | |
| ENST00000264818.10:c.2517A>G | ENSP00000264818.6:p.Pro839= | |
| ENST00000524462.5:c.1962A>G | ENSP00000433203.1:p.Pro654= | |
| ENST00000525621.5:c.2517A>G | ENSP00000431885.1:p.Pro839= | |
| ENST00000529412.1:n.189A>G | ||
| ENST00000534228.1:n.417A>G | ||
| NM_003331.4:c.2517A>G , LRG_121t1:c.2517A>G | NP_003322.3:p.Pro839= | |
| XM_011528245.1:c.2517A>G | XP_011526547.1:p.Pro839= | |
| XM_011528246.1:c.2220A>G | XP_011526548.1:p.Pro740= | |
| XM_011528247.1:c.2220A>G | XP_011526549.1:p.Pro740= | |
| XM_011528248.1:c.2517A>G | XP_011526550.1:p.Pro839= | |
| XM_011528249.1:c.1191A>G | XP_011526551.1:p.Pro397= | |
| XM_011528251.1:c.774A>G | XP_011526553.1:p.Pro258= | |
| XM_011528246.3:c.2220A>G | XP_011526548.1:p.Pro740= | |
| XM_011528249.2:c.1191A>G | XP_011526551.1:p.Pro397= | |
| XR_001753750.1:n.2674A>G | ||
| XR_001753751.1:n.2674A>G | ||
| XR_002958353.1:n.3600A>G | ||
| NM_003331.5:c.2517A>G MANE Select | NP_003322.3:p.Pro839= | |
| NM_001385197.1:c.2517A>G | NP_001372126.1:p.Pro839= | |
| NM_001385198.1:c.2517A>G | NP_001372127.1:p.Pro839= | |
| NM_001385199.1:c.2331A>G | NP_001372128.1:p.Pro777= | |
| NM_001385200.1:c.2514A>G | NP_001372129.1:p.Pro838= | |
| NM_001385201.1:c.2319A>G | NP_001372130.1:p.Pro773= | |
| NM_001385202.1:c.2433A>G | NP_001372131.1:p.Pro811= | |
| NM_001385203.1:c.2517A>G | NP_001372132.1:p.Pro839= | |
| NM_001385204.1:c.2727A>G | NP_001372133.1:p.Pro909= | |
| NM_001385205.1:c.2427A>G | NP_001372134.1:p.Pro809= | |
| NM_001385206.1:c.2391A>G | NP_001372135.1:p.Pro797= | |
| NM_001385207.1:c.2499A>G | NP_001372136.1:p.Pro833= |