Linked Data
ClinVar Variation Id:
539588
dbSNP Id:
rs139110744
ExAC:
11:95532445 C / T
gnomAD v2:
11-95532445-C-T
gnomAD v3:
11-95799281-C-T
gnomAD v4:
11-95799281-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.95799281C>T , CM000673.2:g.95799281C>T | GRCh38 |
| NC_000011.9:g.95532445C>T , CM000673.1:g.95532445C>T | GRCh37 |
| NC_000011.8:g.95172093C>T | NCBI36 |
| NG_029829.1:g.13821C>T , LRG_526:g.13821C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325542.10:c.95C>T MANE Select | ENSP00000317902.5:p.Ser32Phe | |
| ENST00000325486.9:c.95C>T | ENSP00000317487.5:p.Ser32Phe | |
| ENST00000325542.9:c.95C>T | ENSP00000317902.5:p.Ser32Phe | |
| ENST00000535497.1:c.45+8538C>T | ENSP00000442481.1:n.45+8538C>T | |
| ENST00000537677.5:c.14C>T | ENSP00000441392.1:p.Ser5Phe | |
| ENST00000538095.1:c.*75C>T | ENSP00000443866.1:n.*75C>T | |
| ENST00000538658.5:c.95C>T | ENSP00000445706.1:p.Ser32Phe | |
| ENST00000539855.5:c.95C>T | ENSP00000437422.1:p.Ser32Phe | |
| ENST00000540830.5:c.95C>T | ENSP00000440996.1:p.Ser32Phe | |
| ENST00000541150.5:c.68C>T | ENSP00000443436.1:p.Ser23Phe | |
| ENST00000541365.5:c.14C>T | ENSP00000445821.1:p.Ser5Phe | |
| ENST00000544522.5:c.68C>T | ENSP00000438065.1:p.Ser23Phe | |
| NM_001243776.1:c.68C>T | NP_001230705.1:p.Ser23Phe | |
| NM_001243777.1:c.95C>T | NP_001230706.1:p.Ser32Phe | |
| NM_014679.4:c.95C>T | NP_055494.2:p.Ser32Phe | |
| XM_006718945.2:c.95C>T | XP_006719008.1:p.Ser32Phe | |
| XM_006718946.2:c.95C>T | XP_006719009.1:p.Ser32Phe | |
| NM_001363604.1:c.14C>T | NP_001350533.1:p.Ser5Phe | |
| XM_006718945.3:c.95C>T | XP_006719008.1:p.Ser32Phe | |
| XM_006718946.3:c.95C>T | XP_006719009.1:p.Ser32Phe | |
| XM_017018592.1:c.68C>T | XP_016874081.1:p.Ser23Phe | |
| XM_017018593.2:c.95C>T | XP_016874082.1:p.Ser32Phe | |
| XM_017018594.2:c.95C>T | XP_016874083.1:p.Ser32Phe | |
| XM_024448779.1:c.14C>T | XP_024304547.1:p.Ser5Phe | |
| XR_001748050.2:n.323C>T | ||
| NM_014679.5:c.95C>T MANE Select | NP_055494.2:p.Ser32Phe | |
| NM_001243776.2:c.68C>T | NP_001230705.1:p.Ser23Phe | |
| NM_001243777.2:c.95C>T | NP_001230706.1:p.Ser32Phe | |
| NM_001363604.2:c.14C>T | NP_001350533.1:p.Ser5Phe |