Linked Data
dbSNP Id:
rs1476455
gnomAD v2:
7-86551740-C-A
gnomAD v3:
7-86922424-C-A
gnomAD v4:
7-86922424-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.86922424C>A , CM000669.2:g.86922424C>A | GRCh38 |
| NC_000007.13:g.86551740C>A , CM000669.1:g.86551740C>A | GRCh37 |
| NC_000007.12:g.86389676C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450689.7:c.1399+3104G>T MANE Select | ENSP00000413445.2:n.1399+3104G>T | |
| ENST00000394714.6:c.927+3104G>T | ||
| ENST00000416314.5:c.898+3104G>T | ENSP00000402390.1:n.898+3104G>T | |
| ENST00000423294.5:c.1280+3104G>T | ||
| ENST00000444627.5:c.1399+3104G>T | ENSP00000397377.1:n.1399+3104G>T | |
| ENST00000450689.6:c.1399+3104G>T | ENSP00000413445.2:n.1399+3104G>T | |
| NM_001142749.2:c.1399+3104G>T | NP_001136221.1:n.1399+3104G>T | |
| NM_001291990.1:c.1057+3104G>T | NP_001278919.1:n.1057+3104G>T | |
| NM_001291991.1:c.679+3104G>T | NP_001278920.1:n.679+3104G>T | |
| NM_152748.3:c.898+3104G>T | NP_689961.3:n.898+3104G>T | |
| XM_006715894.2:c.1057+3104G>T | XP_006715957.1:n.1057+3104G>T | |
| XM_006715895.1:c.1057+3104G>T | XP_006715958.1:n.1057+3104G>T | |
| XM_011515918.1:c.1234+3104G>T | XP_011514220.1:n.1234+3104G>T | |
| XM_011515919.1:c.1057+3104G>T | XP_011514221.1:n.1057+3104G>T | |
| XM_011515920.1:c.1057+3104G>T | XP_011514222.1:n.1057+3104G>T | |
| XM_011515921.1:c.1057+3104G>T | XP_011514223.1:n.1057+3104G>T | |
| XM_006715894.3:c.1057+3104G>T | XP_006715957.1:n.1057+3104G>T | |
| XM_011515918.2:c.1234+3104G>T | XP_011514220.1:n.1234+3104G>T | |
| XM_017011843.1:c.1399+3104G>T | XP_016867332.1:n.1399+3104G>T | |
| XM_017011844.1:c.898+3104G>T | XP_016867333.1:n.898+3104G>T | |
| NM_001142749.3:c.1399+3104G>T MANE Select | NP_001136221.1:n.1399+3104G>T | |
| NM_152748.4:c.898+3104G>T | NP_689961.3:n.898+3104G>T | |
| NM_001291991.2:c.679+3104G>T | NP_001278920.1:n.679+3104G>T |