Linked Data
dbSNP Id:
rs776180467
ExAC:
14:90870672 C / T
gnomAD v2:
14-90870672-C-T
gnomAD v4:
14-90404328-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90404328C>T , CM000676.2:g.90404328C>T | GRCh38 |
| NC_000014.8:g.90870672C>T , CM000676.1:g.90870672C>T | GRCh37 |
| NC_000014.7:g.89940425C>T | NCBI36 |
| NG_013338.1:g.12346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356978.9:c.286-51C>T MANE Select | ENSP00000349467.4:n.286-51C>T | |
| ENST00000447653.8:c.178-51C>T | ENSP00000403491.4:n.178-51C>T | |
| ENST00000659177.1:c.178-51C>T | ENSP00000499421.1:n.178-51C>T | |
| ENST00000663135.1:c.178-51C>T | ENSP00000499498.1:n.178-51C>T | |
| ENST00000356978.8:c.286-51C>T | ENSP00000349467.4:n.286-51C>T | |
| ENST00000447653.7:c.289-51C>T | ENSP00000403491.3:n.289-51C>T | |
| ENST00000544280.6:c.178-51C>T | ENSP00000442853.2:n.178-51C>T | |
| ENST00000553422.1:c.178-71C>T | ENSP00000450425.1:n.178-71C>T | |
| ENST00000553542.5:c.178-51C>T | ENSP00000450829.1:n.178-51C>T | |
| ENST00000553630.1:c.179-51C>T | ENSP00000451646.1:n.179-51C>T | |
| ENST00000553964.5:n.2416-51C>T | ||
| ENST00000554296.1:n.338-51C>T | ||
| ENST00000556721.1:n.161C>T | ||
| ENST00000557020.5:c.178-51C>T | ENSP00000451062.1:n.178-51C>T | |
| ENST00000626705.2:c.166-129C>T | ENSP00000486402.1:n.166-129C>T | |
| NM_006888.4:c.286-51C>T | NP_008819.1:n.286-51C>T | |
| XM_006720258.2:c.289-51C>T | XP_006720321.1:n.289-51C>T | |
| NM_001363669.1:c.178-51C>T | NP_001350598.1:n.178-51C>T | |
| NM_001363670.1:c.289-51C>T | NP_001350599.1:n.289-51C>T | |
| NM_006888.5:c.286-51C>T | NP_008819.1:n.286-51C>T | |
| NM_006888.6:c.286-51C>T MANE Select | NP_008819.1:n.286-51C>T | |
| NM_001363669.2:c.178-51C>T | NP_001350598.1:n.178-51C>T | |
| NM_001363670.2:c.289-51C>T | NP_001350599.1:n.289-51C>T |