Linked Data
ClinVar Variation Id:
389684
dbSNP Id:
rs201018787
ExAC:
14:90867764 A / G
gnomAD v2:
14-90867764-A-G
gnomAD v3:
14-90401420-A-G
gnomAD v4:
14-90401420-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90401420A>G , CM000676.2:g.90401420A>G | GRCh38 |
| NC_000014.8:g.90867764A>G , CM000676.1:g.90867764A>G | GRCh37 |
| NC_000014.7:g.89937517A>G | NCBI36 |
| NG_013338.1:g.9438A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356978.9:c.178+18A>G MANE Select | ENSP00000349467.4:n.178+18A>G | |
| ENST00000447653.8:c.70+18A>G | ENSP00000403491.4:n.70+18A>G | |
| ENST00000659177.1:c.70+18A>G | ENSP00000499421.1:n.70+18A>G | |
| ENST00000663135.1:c.70+18A>G | ENSP00000499498.1:n.70+18A>G | |
| ENST00000356978.8:c.178+18A>G | ENSP00000349467.4:n.178+18A>G | |
| ENST00000447653.7:c.181+18A>G | ENSP00000403491.3:n.181+18A>G | |
| ENST00000544280.6:c.70+18A>G | ENSP00000442853.2:n.70+18A>G | |
| ENST00000553422.1:c.70+18A>G | ENSP00000450425.1:n.70+18A>G | |
| ENST00000553542.5:c.70+18A>G | ENSP00000450829.1:n.70+18A>G | |
| ENST00000553630.1:c.178+18A>G | ENSP00000451646.1:n.178+18A>G | |
| ENST00000553964.5:n.2308+18A>G | ||
| ENST00000553995.5:n.377+18A>G | ||
| ENST00000555267.1:n.262+18A>G | ||
| ENST00000556757.5:n.395A>G | ||
| ENST00000557020.5:c.70+18A>G | ENSP00000451062.1:n.70+18A>G | |
| ENST00000626705.2:c.165+31A>G | ENSP00000486402.1:n.165+31A>G | |
| NM_006888.4:c.178+18A>G | NP_008819.1:n.178+18A>G | |
| XM_006720258.2:c.181+18A>G | XP_006720321.1:n.181+18A>G | |
| NM_001363669.1:c.70+18A>G | NP_001350598.1:n.70+18A>G | |
| NM_001363670.1:c.181+18A>G | NP_001350599.1:n.181+18A>G | |
| NM_006888.5:c.178+18A>G | NP_008819.1:n.178+18A>G | |
| NM_006888.6:c.178+18A>G MANE Select | NP_008819.1:n.178+18A>G | |
| NM_001363669.2:c.70+18A>G | NP_001350598.1:n.70+18A>G | |
| NM_001363670.2:c.181+18A>G | NP_001350599.1:n.181+18A>G |