Linked Data
ClinVar Variation Id:
2716224
ClinVar RCV Id:
RCV003585578
dbSNP Id:
rs373654490
ExAC:
5:131911450 T / G
gnomAD v2:
5-131911450-T-G
gnomAD v4:
5-132575758-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132575758T>G , CM000667.2:g.132575758T>G | GRCh38 |
| NC_000005.9:g.131911450T>G , CM000667.1:g.131911450T>G | GRCh37 |
| NC_000005.8:g.131939349T>G | NCBI36 |
| NG_021151.1:g.23835T>G | |
| NG_021151.2:g.23782T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.214-19T>G MANE Select | ENSP00000368100.4:n.214-19T>G | |
| ENST00000638452.2:c.-84-19T>G | ENSP00000492349.2:n.-84-19T>G | |
| ENST00000638504.1:n.291-19T>G | ||
| ENST00000638568.2:c.-84-19T>G | ENSP00000491158.2:n.-84-19T>G | |
| ENST00000639899.1:n.374-19T>G | ||
| ENST00000640655.2:c.-84-19T>G | ENSP00000491596.2:n.-84-19T>G | |
| ENST00000651160.1:c.214-19T>G | ENSP00000498829.1:n.214-19T>G | |
| ENST00000651541.1:c.-84-19T>G | ENSP00000498795.1:n.-84-19T>G | |
| ENST00000651658.1:n.282-19T>G | ||
| ENST00000651723.1:c.*362-19T>G | ENSP00000498237.1:n.*362-19T>G | |
| ENST00000652016.1:c.214-19T>G | ENSP00000498267.1:n.214-19T>G | |
| ENST00000652485.1:c.214-19T>G | ENSP00000498973.1:n.214-19T>G | |
| ENST00000378823.7:c.214-19T>G | ENSP00000368100.4:n.214-19T>G | |
| ENST00000416135.5:c.-84-19T>G | ENSP00000389515.1:n.-84-19T>G | |
| ENST00000423956.5:c.214-19T>G | ENSP00000390971.1:n.214-19T>G | |
| ENST00000453394.5:c.214-19T>G | ENSP00000400049.1:n.214-19T>G | |
| ENST00000533482.5:c.214-19T>G | ENSP00000431225.1:n.214-19T>G | |
| NM_005732.3:c.214-19T>G | NP_005723.2:n.214-19T>G | |
| NM_005732.4:c.214-19T>G MANE Select | NP_005723.2:n.214-19T>G |