Linked Data
ClinVar Variation Id:
312700
dbSNP Id:
rs199526439
ExAC:
14:105175957 A / G
gnomAD v2:
14-105175957-A-G
gnomAD v3:
14-104709620-A-G
gnomAD v4:
14-104709620-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104709620A>G , CM000676.2:g.104709620A>G | GRCh38 |
| NC_000014.8:g.105175957A>G , CM000676.1:g.105175957A>G | GRCh37 |
| NC_000014.7:g.104247002A>G | NCBI36 |
| NG_027684.1:g.25015A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.2053A>G MANE Select | ENSP00000376410.4:p.Ile685Val | |
| ENST00000617571.5:c.2053A>G | ENSP00000483829.2:p.Ile685Val | |
| ENST00000674520.1:c.2053A>G | ENSP00000502593.1:p.Ile685Val | |
| ENST00000674631.1:c.91A>G | ENSP00000502830.1:p.Ile31Val | |
| ENST00000674662.1:c.2053A>G | ENSP00000501895.1:p.Ile685Val | |
| ENST00000674757.1:c.2053A>G | ENSP00000502202.1:p.Ile685Val | |
| ENST00000674822.1:c.1937A>G | ENSP00000501552.1:n.1937A>G | |
| ENST00000674846.1:c.2053A>G | ENSP00000502431.1:p.Ile685Val | |
| ENST00000674857.1:c.2042A>G | ENSP00000501687.1:n.2042A>G | |
| ENST00000674960.1:c.1911A>G | ENSP00000501841.1:n.1911A>G | |
| ENST00000674991.1:c.1303A>G | ENSP00000502004.1:p.Ile435Val | |
| ENST00000674994.1:c.2019A>G | ENSP00000502442.1:n.2019A>G | |
| ENST00000675207.1:c.2149A>G | ENSP00000502644.1:p.Ile717Val | |
| ENST00000675329.1:c.2029A>G | ENSP00000502287.1:p.Ile677Val | |
| ENST00000675481.1:c.2053A>G | ENSP00000502723.1:p.Ile685Val | |
| ENST00000675583.1:c.2053A>G | ENSP00000501740.1:p.Ile685Val | |
| ENST00000675638.1:c.2053A>G | ENSP00000501647.1:p.Ile685Val | |
| ENST00000675724.1:c.1991A>G | ENSP00000502576.1:n.1991A>G | |
| ENST00000675771.1:c.1316A>G | ENSP00000502104.1:n.1316A>G | |
| ENST00000675797.1:c.1458A>G | ENSP00000502023.1:n.1458A>G | |
| ENST00000675809.1:c.2053A>G | ENSP00000502587.1:p.Ile685Val | |
| ENST00000675930.1:c.2053A>G | ENSP00000502456.1:p.Ile685Val | |
| ENST00000675980.1:c.2053A>G | ENSP00000502520.1:p.Ile685Val | |
| ENST00000676016.1:c.2053A>G | ENSP00000502412.1:p.Ile685Val | |
| ENST00000676366.1:c.2053A>G | ENSP00000501605.1:p.Ile685Val | |
| ENST00000252527.8:c.457A>G | ENSP00000252527.8:p.Ile153Val | |
| ENST00000330634.11:c.2053A>G | ENSP00000376406.3:p.Ile685Val | |
| ENST00000392634.8:c.2053A>G | ENSP00000376410.4:p.Ile685Val | |
| ENST00000474229.1:n.546A>G | ||
| ENST00000617571.4:c.-2071A>G | ENSP00000483829.1:n.-2071A>G | |
| NM_001031714.3:c.2053A>G | NP_001026884.3:p.Ile685Val | |
| NM_022489.3:c.2053A>G | NP_071934.3:p.Ile685Val | |
| XM_005268004.3:c.2149A>G | XP_005268061.1:p.Ile717Val | |
| XM_005268005.3:c.2149A>G | XP_005268062.1:p.Ile717Val | |
| XR_943507.1:n.2278A>G | ||
| XM_005268004.4:c.2149A>G | XP_005268061.1:p.Ile717Val | |
| XM_005268005.4:c.2149A>G | XP_005268062.1:p.Ile717Val | |
| XM_017021595.1:c.2149A>G | XP_016877084.1:p.Ile717Val | |
| XR_001750518.1:n.2254A>G | ||
| NM_001031714.4:c.2053A>G | NP_001026884.3:p.Ile685Val | |
| NM_022489.4:c.2053A>G MANE Select | NP_071934.3:p.Ile685Val |