Linked Data
ClinVar Variation Id:
540045
dbSNP Id:
rs377145979
ExAC:
14:105179309 C / G
gnomAD v2:
14-105179309-C-G
gnomAD v3:
14-104712972-C-G
gnomAD v4:
14-104712972-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104712972C>G , CM000676.2:g.104712972C>G | GRCh38 |
| NC_000014.8:g.105179309C>G , CM000676.1:g.105179309C>G | GRCh37 |
| NC_000014.7:g.104250354C>G | NCBI36 |
| NG_027684.1:g.28367C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.2755C>G MANE Select | ENSP00000376410.4:p.Leu919Val | |
| ENST00000617571.5:c.2755C>G | ENSP00000483829.2:p.Leu919Val | |
| ENST00000674520.1:c.2750C>G | ENSP00000502593.1:n.2750C>G | |
| ENST00000674631.1:c.793C>G | ENSP00000502830.1:p.Leu265Val | |
| ENST00000674662.1:c.2759C>G | ENSP00000501895.1:n.2759C>G | |
| ENST00000674757.1:c.2755C>G | ENSP00000502202.1:p.Leu919Val | |
| ENST00000674822.1:c.2639C>G | ENSP00000501552.1:n.2639C>G | |
| ENST00000674846.1:c.2750C>G | ENSP00000502431.1:n.2750C>G | |
| ENST00000674857.1:c.2744C>G | ENSP00000501687.1:n.2744C>G | |
| ENST00000674960.1:c.2613C>G | ENSP00000501841.1:n.2613C>G | |
| ENST00000674991.1:c.2005C>G | ENSP00000502004.1:p.Leu669Val | |
| ENST00000674994.1:c.2721C>G | ENSP00000502442.1:n.2721C>G | |
| ENST00000675207.1:c.2851C>G | ENSP00000502644.1:p.Leu951Val | |
| ENST00000675329.1:c.2731C>G | ENSP00000502287.1:p.Leu911Val | |
| ENST00000675481.1:c.2755C>G | ENSP00000502723.1:p.Leu919Val | |
| ENST00000675557.1:n.534C>G | ||
| ENST00000675583.1:c.2684C>G | ENSP00000501740.1:n.2684C>G | |
| ENST00000675638.1:c.2755C>G | ENSP00000501647.1:p.Leu919Val | |
| ENST00000675724.1:c.2693C>G | ENSP00000502576.1:n.2693C>G | |
| ENST00000675771.1:c.2018C>G | ENSP00000502104.1:n.2018C>G | |
| ENST00000675797.1:c.2160C>G | ENSP00000502023.1:n.2160C>G | |
| ENST00000675809.1:c.2810C>G | ENSP00000502587.1:n.2810C>G | |
| ENST00000675930.1:c.2755C>G | ENSP00000502456.1:p.Leu919Val | |
| ENST00000675980.1:c.2773C>G | ENSP00000502520.1:p.Leu925Val | |
| ENST00000676016.1:c.2654C>G | ENSP00000502412.1:n.2654C>G | |
| ENST00000676366.1:c.2755C>G | ENSP00000501605.1:p.Leu919Val | |
| ENST00000252527.8:c.1159C>G | ENSP00000252527.8:p.Leu387Val | |
| ENST00000330634.11:c.2755C>G | ENSP00000376406.3:p.Leu919Val | |
| ENST00000392634.8:c.2755C>G | ENSP00000376410.4:p.Leu919Val | |
| ENST00000477497.1:n.260C>G | ||
| ENST00000617571.4:c.-1379C>G | ENSP00000483829.1:n.-1379C>G | |
| NM_001031714.3:c.2755C>G | NP_001026884.3:p.Leu919Val | |
| NM_022489.3:c.2755C>G | NP_071934.3:p.Leu919Val | |
| XM_005268004.3:c.2851C>G | XP_005268061.1:p.Leu951Val | |
| XM_005268005.3:c.2851C>G | XP_005268062.1:p.Leu951Val | |
| XR_943507.1:n.2980C>G | ||
| XM_005268004.4:c.2851C>G | XP_005268061.1:p.Leu951Val | |
| XM_005268005.4:c.2851C>G | XP_005268062.1:p.Leu951Val | |
| XM_017021595.1:c.2851C>G | XP_016877084.1:p.Leu951Val | |
| NM_001031714.4:c.2755C>G | NP_001026884.3:p.Leu919Val | |
| NM_022489.4:c.2755C>G MANE Select | NP_071934.3:p.Leu919Val |