Linked Data
dbSNP Id:
rs1170072105
gnomAD v2:
1-16378634-T-G
gnomAD v3:
1-16052139-T-G
gnomAD v4:
1-16052139-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16052139T>G , CM000663.2:g.16052139T>G | GRCh38 |
| NC_000001.10:g.16378634T>G , CM000663.1:g.16378634T>G | GRCh37 |
| NC_000001.9:g.16251221T>G | NCBI36 |
| NG_013079.1:g.13388T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1409-59T>G | ENSP00000507062.1:n.1409-59T>G | |
| ENST00000682793.1:c.1409-59T>G | ENSP00000506910.1:n.1409-59T>G | |
| ENST00000682838.1:c.*1151-59T>G | ENSP00000507652.1:n.*1151-59T>G | |
| ENST00000683578.1:c.1409-59T>G | ENSP00000507430.1:n.1409-59T>G | |
| ENST00000683606.1:n.1024-68T>G | ||
| ENST00000683661.1:n.2944-59T>G | ||
| ENST00000684324.1:c.1409-59T>G | ENSP00000507937.1:n.1409-59T>G | |
| ENST00000684545.1:c.1409-59T>G | ENSP00000506733.1:n.1409-59T>G | |
| ENST00000684624.1:n.786-59T>G | ||
| ENST00000684714.1:c.1409-59T>G | ENSP00000506861.1:n.1409-59T>G | |
| ENST00000684731.1:n.870-59T>G | ||
| ENST00000375679.9:c.1409-59T>G MANE Select | ENSP00000364831.5:n.1409-59T>G | |
| ENST00000375667.7:c.902-59T>G | ENSP00000364819.3:n.902-59T>G | |
| ENST00000375679.8:c.1409-59T>G | ENSP00000364831.4:n.1409-59T>G | |
| ENST00000619181.4:c.1028-59T>G | ENSP00000483866.1:n.1028-59T>G | |
| NM_000085.4:c.1409-59T>G | NP_000076.2:n.1409-59T>G | |
| NM_001165945.2:c.902-59T>G | NP_001159417.2:n.902-59T>G | |
| XM_011540619.1:c.1250-59T>G | XP_011538921.1:n.1250-59T>G | |
| XM_011540620.1:c.1409-59T>G | XP_011538922.1:n.1409-59T>G | |
| XM_011540621.1:c.758-59T>G | XP_011538923.1:n.758-59T>G | |
| NM_000085.5:c.1409-59T>G MANE Select | NP_000076.2:n.1409-59T>G |