Linked Data
ClinVar Variation Id:
472862
dbSNP Id:
rs201091360
ExAC:
14:105181629 C / T
gnomAD v2:
14-105181629-C-T
gnomAD v3:
14-104715292-C-T
gnomAD v4:
14-104715292-C-T
MyVariant Identifiers:
chr14:g.105181629C>T (hg19)
chr14:g.105181629_105181631delinsTCT (hg19)
chr14:g.104715292C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104715292C>T , CM000676.2:g.104715292C>T | GRCh38 |
| NC_000014.8:g.105181629C>T , CM000676.1:g.105181629C>T | GRCh37 |
| NC_000014.7:g.104252674C>T | NCBI36 |
| NG_027684.1:g.30687C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.3703C>T MANE Select | ENSP00000376410.4:p.Pro1235Ser | |
| ENST00000617571.5:c.3699C>T | ENSP00000483829.2:n.3699C>T | |
| ENST00000674631.1:c.2168C>T | ENSP00000502830.1:n.2168C>T | |
| ENST00000674662.1:c.3707C>T | ENSP00000501895.1:n.3707C>T | |
| ENST00000674686.1:c.9C>T | ||
| ENST00000674757.1:c.3708C>T | ENSP00000502202.1:n.3708C>T | |
| ENST00000675207.1:c.3799C>T | ENSP00000502644.1:p.Pro1267Ser | |
| ENST00000675329.1:c.3679C>T | ENSP00000502287.1:p.Pro1227Ser | |
| ENST00000675424.1:c.9C>T | ||
| ENST00000675481.1:c.3706C>T | ENSP00000502723.1:p.Pro1236Ser | |
| ENST00000675638.1:c.3622C>T | ENSP00000501647.1:p.Pro1208Ser | |
| ENST00000675930.1:c.3591C>T | ENSP00000502456.1:n.3591C>T | |
| ENST00000675980.1:c.3721C>T | ENSP00000502520.1:p.Pro1241Ser | |
| ENST00000676366.1:c.3510C>T | ENSP00000501605.1:n.3510C>T | |
| ENST00000252527.8:c.2107C>T | ENSP00000252527.8:p.Pro703Ser | |
| ENST00000330634.11:c.3694+436C>T | ENSP00000376406.3:n.3694+436C>T | |
| ENST00000392634.8:c.3703C>T | ENSP00000376410.4:p.Pro1235Ser | |
| ENST00000617571.4:c.-431C>T | ENSP00000483829.1:n.-431C>T | |
| NM_001031714.3:c.3694+436C>T | NP_001026884.3:n.3694+436C>T | |
| NM_022489.3:c.3703C>T | NP_071934.3:p.Pro1235Ser | |
| XM_005268004.3:c.3799C>T | XP_005268061.1:p.Pro1267Ser | |
| XM_005268005.3:c.3790+436C>T | XP_005268062.1:n.3790+436C>T | |
| XR_943507.1:n.3928C>T | ||
| XM_005268004.4:c.3799C>T | XP_005268061.1:p.Pro1267Ser | |
| XM_005268005.4:c.3790+436C>T | XP_005268062.1:n.3790+436C>T | |
| XM_017021595.1:c.3799C>T | XP_016877084.1:p.Pro1267Ser | |
| NM_001031714.4:c.3694+436C>T | NP_001026884.3:n.3694+436C>T | |
| NM_022489.4:c.3703C>T MANE Select | NP_071934.3:p.Pro1235Ser |