Linked Data
ClinVar Variation Id:
312711
dbSNP Id:
rs201715539
ExAC:
14:105181062 C / T
gnomAD v2:
14-105181062-C-T
gnomAD v3:
14-104714725-C-T
gnomAD v4:
14-104714725-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104714725C>T , CM000676.2:g.104714725C>T | GRCh38 |
| NC_000014.8:g.105181062C>T , CM000676.1:g.105181062C>T | GRCh37 |
| NC_000014.7:g.104252107C>T | NCBI36 |
| NG_027684.1:g.30120C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.3563C>T MANE Select | ENSP00000376410.4:p.Ser1188Phe | |
| ENST00000617571.5:c.3559C>T | ENSP00000483829.2:n.3559C>T | |
| ENST00000674520.1:c.3558C>T | ENSP00000502593.1:n.3558C>T | |
| ENST00000674631.1:c.1601C>T | ENSP00000502830.1:p.Ser534Phe | |
| ENST00000674662.1:c.3567C>T | ENSP00000501895.1:n.3567C>T | |
| ENST00000674757.1:c.3568C>T | ENSP00000502202.1:n.3568C>T | |
| ENST00000674822.1:c.3447C>T | ENSP00000501552.1:n.3447C>T | |
| ENST00000674846.1:c.3558C>T | ENSP00000502431.1:n.3558C>T | |
| ENST00000674857.1:c.3552C>T | ENSP00000501687.1:n.3552C>T | |
| ENST00000674960.1:c.3421C>T | ENSP00000501841.1:n.3421C>T | |
| ENST00000674991.1:c.2813C>T | ENSP00000502004.1:p.Ser938Phe | |
| ENST00000675207.1:c.3659C>T | ENSP00000502644.1:p.Ser1220Phe | |
| ENST00000675329.1:c.3539C>T | ENSP00000502287.1:p.Ser1180Phe | |
| ENST00000675481.1:c.3563C>T | ENSP00000502723.1:p.Ser1188Phe | |
| ENST00000675583.1:c.3492C>T | ENSP00000501740.1:n.3492C>T | |
| ENST00000675603.1:n.803C>T | ||
| ENST00000675638.1:c.3482C>T | ENSP00000501647.1:p.Ser1161Phe | |
| ENST00000675724.1:c.3501C>T | ENSP00000502576.1:n.3501C>T | |
| ENST00000675771.1:c.2826C>T | ENSP00000502104.1:n.2826C>T | |
| ENST00000675797.1:c.2968C>T | ENSP00000502023.1:n.2968C>T | |
| ENST00000675809.1:c.3618C>T | ENSP00000502587.1:n.3618C>T | |
| ENST00000675930.1:c.3451C>T | ENSP00000502456.1:p.Pro1151Ser | |
| ENST00000675980.1:c.3581C>T | ENSP00000502520.1:p.Ser1194Phe | |
| ENST00000676016.1:c.3462C>T | ENSP00000502412.1:n.3462C>T | |
| ENST00000676366.1:c.3370C>T | ENSP00000501605.1:p.Pro1124Ser | |
| ENST00000252527.8:c.1967C>T | ENSP00000252527.8:p.Ser656Phe | |
| ENST00000330634.11:c.3563C>T | ENSP00000376406.3:p.Ser1188Phe | |
| ENST00000392634.8:c.3563C>T | ENSP00000376410.4:p.Ser1188Phe | |
| ENST00000617571.4:c.-571C>T | ENSP00000483829.1:n.-571C>T | |
| NM_001031714.3:c.3563C>T | NP_001026884.3:p.Ser1188Phe | |
| NM_022489.3:c.3563C>T | NP_071934.3:p.Ser1188Phe | |
| XM_005268004.3:c.3659C>T | XP_005268061.1:p.Ser1220Phe | |
| XM_005268005.3:c.3659C>T | XP_005268062.1:p.Ser1220Phe | |
| XR_943507.1:n.3788C>T | ||
| XM_005268004.4:c.3659C>T | XP_005268061.1:p.Ser1220Phe | |
| XM_005268005.4:c.3659C>T | XP_005268062.1:p.Ser1220Phe | |
| XM_017021595.1:c.3659C>T | XP_016877084.1:p.Ser1220Phe | |
| NM_001031714.4:c.3563C>T | NP_001026884.3:p.Ser1188Phe | |
| NM_022489.4:c.3563C>T MANE Select | NP_071934.3:p.Ser1188Phe |