Linked Data
ClinVar Variation Id:
1541380
ClinVar RCV Id:
RCV002172475
dbSNP Id:
rs1561639963
gnomAD v2:
5-131925307-T-G
gnomAD v3:
5-132589615-T-G
gnomAD v4:
5-132589615-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132589615T>G , CM000667.2:g.132589615T>G | GRCh38 |
| NC_000005.9:g.131925307T>G , CM000667.1:g.131925307T>G | GRCh37 |
| NC_000005.8:g.131953206T>G | NCBI36 |
| NG_021151.1:g.37692T>G | |
| NG_021151.2:g.37639T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1246-16T>G MANE Select | ENSP00000368100.4:n.1246-16T>G | |
| ENST00000638452.2:c.949-16T>G | ENSP00000492349.2:n.949-16T>G | |
| ENST00000638504.1:n.932-16T>G | ||
| ENST00000638568.2:c.949-16T>G | ENSP00000491158.2:n.949-16T>G | |
| ENST00000639899.1:n.1765-16T>G | ||
| ENST00000640655.2:c.949-16T>G | ENSP00000491596.2:n.949-16T>G | |
| ENST00000651160.1:c.1246-16T>G | ENSP00000498829.1:n.1246-16T>G | |
| ENST00000651541.1:c.949-16T>G | ENSP00000498795.1:n.949-16T>G | |
| ENST00000651658.1:n.1673-16T>G | ||
| ENST00000651723.1:c.*1329-16T>G | ENSP00000498237.1:n.*1329-16T>G | |
| ENST00000652016.1:c.1246-16T>G | ENSP00000498267.1:n.1246-16T>G | |
| ENST00000652485.1:c.1246-16T>G | ENSP00000498973.1:n.1246-16T>G | |
| ENST00000378823.7:c.1246-16T>G | ENSP00000368100.4:n.1246-16T>G | |
| ENST00000423956.5:c.1246-16T>G | ENSP00000390971.1:n.1246-16T>G | |
| ENST00000453394.5:c.1246-16T>G | ENSP00000400049.1:n.1246-16T>G | |
| ENST00000533482.5:c.*872-16T>G | ENSP00000431225.1:n.*872-16T>G | |
| NM_005732.3:c.1246-16T>G | NP_005723.2:n.1246-16T>G | |
| NM_005732.4:c.1246-16T>G MANE Select | NP_005723.2:n.1246-16T>G |