Linked Data
ClinVar Variation Id:
383168
dbSNP Id:
rs371775604
ExAC:
14:105174056 T / C
gnomAD v2:
14-105174056-T-C
gnomAD v3:
14-104707719-T-C
gnomAD v4:
14-104707719-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104707719T>C , CM000676.2:g.104707719T>C | GRCh38 |
| NC_000014.8:g.105174056T>C , CM000676.1:g.105174056T>C | GRCh37 |
| NC_000014.7:g.104245101T>C | NCBI36 |
| NG_027684.1:g.23114T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.1452T>C MANE Select | ENSP00000376410.4:p.Cys484= | |
| ENST00000617571.5:c.1452T>C | ENSP00000483829.2:p.Cys484= | |
| ENST00000674520.1:c.1452T>C | ENSP00000502593.1:p.Cys484= | |
| ENST00000674602.1:c.467T>C | ||
| ENST00000674662.1:c.1452T>C | ENSP00000501895.1:p.Cys484= | |
| ENST00000674757.1:c.1452T>C | ENSP00000502202.1:p.Cys484= | |
| ENST00000674822.1:c.1336T>C | ENSP00000501552.1:n.1336T>C | |
| ENST00000674846.1:c.1452T>C | ENSP00000502431.1:p.Cys484= | |
| ENST00000674857.1:c.1441T>C | ENSP00000501687.1:n.1441T>C | |
| ENST00000674960.1:c.1310T>C | ENSP00000501841.1:n.1310T>C | |
| ENST00000674991.1:c.985+668T>C | ENSP00000502004.1:n.985+668T>C | |
| ENST00000674994.1:c.1418T>C | ENSP00000502442.1:n.1418T>C | |
| ENST00000675207.1:c.1548T>C | ENSP00000502644.1:p.Cys516= | |
| ENST00000675329.1:c.1428T>C | ENSP00000502287.1:p.Cys476= | |
| ENST00000675481.1:c.1452T>C | ENSP00000502723.1:p.Cys484= | |
| ENST00000675583.1:c.1452T>C | ENSP00000501740.1:p.Cys484= | |
| ENST00000675638.1:c.1452T>C | ENSP00000501647.1:p.Cys484= | |
| ENST00000675724.1:c.1452T>C | ENSP00000502576.1:p.Cys484= | |
| ENST00000675771.1:c.844-129T>C | ENSP00000502104.1:n.844-129T>C | |
| ENST00000675797.1:c.986-129T>C | ENSP00000502023.1:n.986-129T>C | |
| ENST00000675809.1:c.1452T>C | ENSP00000502587.1:p.Cys484= | |
| ENST00000675930.1:c.1452T>C | ENSP00000502456.1:p.Cys484= | |
| ENST00000675980.1:c.1452T>C | ENSP00000502520.1:p.Cys484= | |
| ENST00000676016.1:c.1452T>C | ENSP00000502412.1:p.Cys484= | |
| ENST00000676366.1:c.1452T>C | ENSP00000501605.1:p.Cys484= | |
| ENST00000330634.11:c.1452T>C | ENSP00000376406.3:p.Cys484= | |
| ENST00000392634.8:c.1452T>C | ENSP00000376410.4:p.Cys484= | |
| NM_001031714.3:c.1452T>C | NP_001026884.3:p.Cys484= | |
| NM_022489.3:c.1452T>C | NP_071934.3:p.Cys484= | |
| XM_005268004.3:c.1548T>C | XP_005268061.1:p.Cys516= | |
| XM_005268005.3:c.1548T>C | XP_005268062.1:p.Cys516= | |
| XR_943507.1:n.1677T>C | ||
| XM_005268004.4:c.1548T>C | XP_005268061.1:p.Cys516= | |
| XM_005268005.4:c.1548T>C | XP_005268062.1:p.Cys516= | |
| XM_017021595.1:c.1548T>C | XP_016877084.1:p.Cys516= | |
| XR_001750518.1:n.1653T>C | ||
| NM_001031714.4:c.1452T>C | NP_001026884.3:p.Cys484= | |
| NM_022489.4:c.1452T>C MANE Select | NP_071934.3:p.Cys484= |