Linked Data
ClinVar Variation Id:
518072
dbSNP Id:
rs753188664
ExAC:
14:105174052 C / T
gnomAD v2:
14-105174052-C-T
gnomAD v3:
14-104707715-C-T
gnomAD v4:
14-104707715-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104707715C>T , CM000676.2:g.104707715C>T | GRCh38 |
| NC_000014.8:g.105174052C>T , CM000676.1:g.105174052C>T | GRCh37 |
| NC_000014.7:g.104245097C>T | NCBI36 |
| NG_027684.1:g.23110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.1448C>T MANE Select | ENSP00000376410.4:p.Ser483Phe | |
| ENST00000617571.5:c.1448C>T | ENSP00000483829.2:p.Ser483Phe | |
| ENST00000674520.1:c.1448C>T | ENSP00000502593.1:p.Ser483Phe | |
| ENST00000674602.1:c.463C>T | ||
| ENST00000674662.1:c.1448C>T | ENSP00000501895.1:p.Ser483Phe | |
| ENST00000674757.1:c.1448C>T | ENSP00000502202.1:p.Ser483Phe | |
| ENST00000674822.1:c.1332C>T | ENSP00000501552.1:n.1332C>T | |
| ENST00000674846.1:c.1448C>T | ENSP00000502431.1:p.Ser483Phe | |
| ENST00000674857.1:c.1437C>T | ENSP00000501687.1:n.1437C>T | |
| ENST00000674960.1:c.1306C>T | ENSP00000501841.1:n.1306C>T | |
| ENST00000674991.1:c.985+664C>T | ENSP00000502004.1:n.985+664C>T | |
| ENST00000674994.1:c.1414C>T | ENSP00000502442.1:n.1414C>T | |
| ENST00000675207.1:c.1544C>T | ENSP00000502644.1:p.Ser515Phe | |
| ENST00000675329.1:c.1424C>T | ENSP00000502287.1:p.Ser475Phe | |
| ENST00000675481.1:c.1448C>T | ENSP00000502723.1:p.Ser483Phe | |
| ENST00000675583.1:c.1448C>T | ENSP00000501740.1:p.Ser483Phe | |
| ENST00000675638.1:c.1448C>T | ENSP00000501647.1:p.Ser483Phe | |
| ENST00000675724.1:c.1448C>T | ENSP00000502576.1:p.Ser483Phe | |
| ENST00000675771.1:c.844-133C>T | ENSP00000502104.1:n.844-133C>T | |
| ENST00000675797.1:c.986-133C>T | ENSP00000502023.1:n.986-133C>T | |
| ENST00000675809.1:c.1448C>T | ENSP00000502587.1:p.Ser483Phe | |
| ENST00000675930.1:c.1448C>T | ENSP00000502456.1:p.Ser483Phe | |
| ENST00000675980.1:c.1448C>T | ENSP00000502520.1:p.Ser483Phe | |
| ENST00000676016.1:c.1448C>T | ENSP00000502412.1:p.Ser483Phe | |
| ENST00000676366.1:c.1448C>T | ENSP00000501605.1:p.Ser483Phe | |
| ENST00000330634.11:c.1448C>T | ENSP00000376406.3:p.Ser483Phe | |
| ENST00000392634.8:c.1448C>T | ENSP00000376410.4:p.Ser483Phe | |
| NM_001031714.3:c.1448C>T | NP_001026884.3:p.Ser483Phe | |
| NM_022489.3:c.1448C>T | NP_071934.3:p.Ser483Phe | |
| XM_005268004.3:c.1544C>T | XP_005268061.1:p.Ser515Phe | |
| XM_005268005.3:c.1544C>T | XP_005268062.1:p.Ser515Phe | |
| XR_943507.1:n.1673C>T | ||
| XM_005268004.4:c.1544C>T | XP_005268061.1:p.Ser515Phe | |
| XM_005268005.4:c.1544C>T | XP_005268062.1:p.Ser515Phe | |
| XM_017021595.1:c.1544C>T | XP_016877084.1:p.Ser515Phe | |
| XR_001750518.1:n.1649C>T | ||
| NM_001031714.4:c.1448C>T | NP_001026884.3:p.Ser483Phe | |
| NM_022489.4:c.1448C>T MANE Select | NP_071934.3:p.Ser483Phe |