Linked Data
dbSNP Id:
rs755800462
ExAC:
10:82034269 A / C
gnomAD v2:
10-82034269-A-C
gnomAD v4:
10-80274513-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80274513A>C , CM000672.2:g.80274513A>C | GRCh38 |
| NC_000010.10:g.82034269A>C , CM000672.1:g.82034269A>C | GRCh37 |
| NC_000010.9:g.82024249A>C | NCBI36 |
| NG_008083.1:g.20166T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.1085+7T>G MANE Select | ENSP00000361287.3:n.1085+7T>G | |
| ENST00000372213.7:c.1085+7T>G | ENSP00000361287.3:n.1085+7T>G | |
| ENST00000480845.1:n.317+7T>G | ||
| ENST00000485270.5:n.597+7T>G | ||
| NM_000429.2:c.1085+7T>G | NP_000420.1:n.1085+7T>G | |
| XM_005269842.3:c.1085+7T>G | XP_005269899.1:n.1085+7T>G | |
| XM_005269843.3:c.962+7T>G | XP_005269900.1:n.962+7T>G | |
| NM_000429.3:c.1085+7T>G MANE Select | NP_000420.1:n.1085+7T>G |