Linked Data
ClinVar Variation Id:
312704
dbSNP Id:
rs377414980
ExAC:
14:105179890 C / T
gnomAD v2:
14-105179890-C-T
gnomAD v3:
14-104713553-C-T
gnomAD v4:
14-104713553-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104713553C>T , CM000676.2:g.104713553C>T | GRCh38 |
| NC_000014.8:g.105179890C>T , CM000676.1:g.105179890C>T | GRCh37 |
| NC_000014.7:g.104250935C>T | NCBI36 |
| NG_027684.1:g.28948C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.2987C>T MANE Select | ENSP00000376410.4:p.Thr996Ile | |
| ENST00000617571.5:c.2983C>T | ENSP00000483829.2:p.Pro995Ser | |
| ENST00000674520.1:c.2982C>T | ENSP00000502593.1:n.2982C>T | |
| ENST00000674631.1:c.1025C>T | ENSP00000502830.1:p.Thr342Ile | |
| ENST00000674662.1:c.2991C>T | ENSP00000501895.1:n.2991C>T | |
| ENST00000674757.1:c.2992C>T | ENSP00000502202.1:p.Pro998Ser | |
| ENST00000674822.1:c.2871C>T | ENSP00000501552.1:n.2871C>T | |
| ENST00000674846.1:c.2982C>T | ENSP00000502431.1:n.2982C>T | |
| ENST00000674857.1:c.2976C>T | ENSP00000501687.1:n.2976C>T | |
| ENST00000674960.1:c.2845C>T | ENSP00000501841.1:n.2845C>T | |
| ENST00000674991.1:c.2237C>T | ENSP00000502004.1:p.Thr746Ile | |
| ENST00000674994.1:c.2953C>T | ENSP00000502442.1:n.2953C>T | |
| ENST00000675207.1:c.3083C>T | ENSP00000502644.1:p.Thr1028Ile | |
| ENST00000675329.1:c.2963C>T | ENSP00000502287.1:p.Thr988Ile | |
| ENST00000675481.1:c.2987C>T | ENSP00000502723.1:p.Thr996Ile | |
| ENST00000675583.1:c.2916C>T | ENSP00000501740.1:n.2916C>T | |
| ENST00000675603.1:n.114C>T | ||
| ENST00000675638.1:c.2987C>T | ENSP00000501647.1:p.Thr996Ile | |
| ENST00000675724.1:c.2925C>T | ENSP00000502576.1:n.2925C>T | |
| ENST00000675771.1:c.2250C>T | ENSP00000502104.1:n.2250C>T | |
| ENST00000675797.1:c.2392C>T | ENSP00000502023.1:n.2392C>T | |
| ENST00000675809.1:c.3042C>T | ENSP00000502587.1:n.3042C>T | |
| ENST00000675930.1:c.2987C>T | ENSP00000502456.1:p.Thr996Ile | |
| ENST00000675980.1:c.3005C>T | ENSP00000502520.1:p.Thr1002Ile | |
| ENST00000676016.1:c.2886C>T | ENSP00000502412.1:n.2886C>T | |
| ENST00000676366.1:c.2987C>T | ENSP00000501605.1:p.Thr996Ile | |
| ENST00000252527.8:c.1391C>T | ENSP00000252527.8:p.Thr464Ile | |
| ENST00000330634.11:c.2987C>T | ENSP00000376406.3:p.Thr996Ile | |
| ENST00000392634.8:c.2987C>T | ENSP00000376410.4:p.Thr996Ile | |
| ENST00000477497.1:n.492C>T | ||
| ENST00000617571.4:c.-1147C>T | ENSP00000483829.1:n.-1147C>T | |
| NM_001031714.3:c.2987C>T | NP_001026884.3:p.Thr996Ile | |
| NM_022489.3:c.2987C>T | NP_071934.3:p.Thr996Ile | |
| XM_005268004.3:c.3083C>T | XP_005268061.1:p.Thr1028Ile | |
| XM_005268005.3:c.3083C>T | XP_005268062.1:p.Thr1028Ile | |
| XR_943507.1:n.3212C>T | ||
| XM_005268004.4:c.3083C>T | XP_005268061.1:p.Thr1028Ile | |
| XM_005268005.4:c.3083C>T | XP_005268062.1:p.Thr1028Ile | |
| XM_017021595.1:c.3083C>T | XP_016877084.1:p.Thr1028Ile | |
| NM_001031714.4:c.2987C>T | NP_001026884.3:p.Thr996Ile | |
| NM_022489.4:c.2987C>T MANE Select | NP_071934.3:p.Thr996Ile |