Linked Data
ClinVar Variation Id:
162063
dbSNP Id:
rs267607278
ExAC:
14:90867640 C / T
gnomAD v2:
14-90867640-C-T
gnomAD v3:
14-90401296-C-T
gnomAD v4:
14-90401296-C-T
COSMIC:
COSM4984301
PubMed:
PMID:23040497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90401296C>T , CM000676.2:g.90401296C>T | GRCh38 |
| NC_000014.8:g.90867640C>T , CM000676.1:g.90867640C>T | GRCh37 |
| NC_000014.7:g.89937393C>T | NCBI36 |
| NG_013338.1:g.9314C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356978.9:c.72C>T MANE Select | ENSP00000349467.4:p.Gly24= | |
| ENST00000447653.8:c.-37C>T | ENSP00000403491.4:n.-37C>T | |
| ENST00000659177.1:c.-37C>T | ENSP00000499421.1:n.-37C>T | |
| ENST00000663135.1:c.-37C>T | ENSP00000499498.1:n.-37C>T | |
| ENST00000356978.8:c.72C>T | ENSP00000349467.4:p.Gly24= | |
| ENST00000447653.7:c.75C>T | ENSP00000403491.3:p.Gly25= | |
| ENST00000544280.6:c.-37C>T | ENSP00000442853.2:n.-37C>T | |
| ENST00000553542.5:c.-37C>T | ENSP00000450829.1:n.-37C>T | |
| ENST00000553630.1:c.72C>T | ENSP00000451646.1:p.Gly24= | |
| ENST00000553964.5:n.2202C>T | ||
| ENST00000553995.5:n.271C>T | ||
| ENST00000555267.1:n.156C>T | ||
| ENST00000556757.5:n.271C>T | ||
| ENST00000557020.5:c.-37C>T | ENSP00000451062.1:n.-37C>T | |
| ENST00000626705.2:c.72C>T | ENSP00000486402.1:p.Gly24= | |
| NM_006888.4:c.72C>T | NP_008819.1:p.Gly24= | |
| XM_006720258.2:c.75C>T | XP_006720321.1:p.Gly25= | |
| NM_001363669.1:c.-37C>T | NP_001350598.1:n.-37C>T | |
| NM_001363670.1:c.75C>T | NP_001350599.1:p.Gly25= | |
| NM_006888.5:c.72C>T | NP_008819.1:p.Gly24= | |
| NM_006888.6:c.72C>T MANE Select | NP_008819.1:p.Gly24= | |
| NM_001363669.2:c.-37C>T | NP_001350598.1:n.-37C>T | |
| NM_001363670.2:c.75C>T | NP_001350599.1:p.Gly25= |