Linked Data
ClinVar Variation Id:
517816
dbSNP Id:
rs184567726
ExAC:
19:10465257 C / G
gnomAD v2:
19-10465257-C-G
gnomAD v3:
19-10354581-C-G
gnomAD v4:
19-10354581-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10354581C>G , CM000681.2:g.10354581C>G | GRCh38 |
| NC_000019.9:g.10465257C>G , CM000681.1:g.10465257C>G | GRCh37 |
| NC_000019.8:g.10326257C>G | NCBI36 |
| NG_007872.1:g.30992G>C , LRG_121:g.30992G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524470.2:c.*995G>C | ENSP00000514307.1:n.*995G>C | |
| ENST00000525976.6:c.2646G>C | ENSP00000434831.2:p.Pro882= | |
| ENST00000527481.3:c.2646G>C | ENSP00000466340.2:p.Pro882= | |
| ENST00000529370.6:n.4022G>C | ||
| ENST00000529739.2:n.3060G>C | ||
| ENST00000530829.2:c.*2197G>C | ENSP00000436826.2:n.*2197G>C | |
| ENST00000531836.6:c.2646G>C | ENSP00000436175.2:p.Pro882= | |
| ENST00000533334.2:c.*688G>C | ENSP00000432320.2:n.*688G>C | |
| ENST00000534228.2:n.4105G>C | ||
| ENST00000699354.1:n.748G>C | ||
| ENST00000699355.1:c.*1751G>C | ENSP00000514328.1:n.*1751G>C | |
| ENST00000699356.1:n.3060G>C | ||
| ENST00000699357.1:n.4105G>C | ||
| ENST00000699358.1:c.2646G>C | ENSP00000514329.1:p.Pro882= | |
| ENST00000699360.1:c.2646G>C | ENSP00000514331.1:p.Pro882= | |
| ENST00000525621.6:c.2646G>C MANE Select | ENSP00000431885.1:p.Pro882= | |
| ENST00000264818.10:c.2646G>C | ENSP00000264818.6:p.Pro882= | |
| ENST00000524462.5:c.2091G>C | ENSP00000433203.1:p.Pro697= | |
| ENST00000525621.5:c.2646G>C | ENSP00000431885.1:p.Pro882= | |
| ENST00000529412.1:n.318G>C | ||
| ENST00000530560.5:c.75G>C | ENSP00000465291.1:p.Pro25= | |
| ENST00000534228.1:n.546G>C | ||
| NM_003331.4:c.2646G>C , LRG_121t1:c.2646G>C | NP_003322.3:p.Pro882= | |
| XM_011528245.1:c.2646G>C | XP_011526547.1:p.Pro882= | |
| XM_011528246.1:c.2349G>C | XP_011526548.1:p.Pro783= | |
| XM_011528247.1:c.2349G>C | XP_011526549.1:p.Pro783= | |
| XM_011528248.1:c.2646G>C | XP_011526550.1:p.Pro882= | |
| XM_011528249.1:c.1320G>C | XP_011526551.1:p.Pro440= | |
| XM_011528251.1:c.903G>C | XP_011526553.1:p.Pro301= | |
| XM_011528246.3:c.2349G>C | XP_011526548.1:p.Pro783= | |
| XM_011528249.2:c.1320G>C | XP_011526551.1:p.Pro440= | |
| XR_001753750.1:n.2803G>C | ||
| XR_001753751.1:n.2803G>C | ||
| XR_002958353.1:n.3729G>C | ||
| NM_003331.5:c.2646G>C MANE Select | NP_003322.3:p.Pro882= | |
| NM_001385197.1:c.2646G>C | NP_001372126.1:p.Pro882= | |
| NM_001385198.1:c.2646G>C | NP_001372127.1:p.Pro882= | |
| NM_001385199.1:c.2460G>C | NP_001372128.1:p.Pro820= | |
| NM_001385200.1:c.2643G>C | NP_001372129.1:p.Pro881= | |
| NM_001385201.1:c.2448G>C | NP_001372130.1:p.Pro816= | |
| NM_001385202.1:c.2562G>C | NP_001372131.1:p.Pro854= | |
| NM_001385203.1:c.2727G>C | NP_001372132.1:p.Pro909= | |
| NM_001385204.1:c.2856G>C | NP_001372133.1:p.Pro952= | |
| NM_001385205.1:c.2556G>C | NP_001372134.1:p.Pro852= | |
| NM_001385206.1:c.2520G>C | NP_001372135.1:p.Pro840= | |
| NM_001385207.1:c.2628G>C | NP_001372136.1:p.Pro876= |