Linked Data
dbSNP Id:
rs745827095
ExAC:
10:88820615 G / A
gnomAD v2:
10-88820615-G-A
gnomAD v3:
10-87060858-G-A
gnomAD v4:
10-87060858-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87060858G>A , CM000672.2:g.87060858G>A | GRCh38 |
| NC_000010.10:g.88820615G>A , CM000672.1:g.88820615G>A | GRCh37 |
| NC_000010.9:g.88810595G>A | NCBI36 |
| NG_013010.1:g.39162C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474574.2:n.2635-33C>T | ||
| ENST00000487058.2:n.328C>T | ||
| ENST00000681987.1:n.898-33C>T | ||
| ENST00000681988.1:c.559-33C>T | ENSP00000507316.1:n.559-33C>T | |
| ENST00000682396.1:c.1051-33C>T | ENSP00000506764.1:n.1051-33C>T | |
| ENST00000682507.1:c.559-33C>T | ENSP00000508098.1:n.559-33C>T | |
| ENST00000682622.1:c.1340-33C>T | ENSP00000506732.1:n.1340-33C>T | |
| ENST00000682833.1:c.895-33C>T | ||
| ENST00000683022.1:c.1081-33C>T | ||
| ENST00000683256.1:c.559-33C>T | ENSP00000507901.1:n.559-33C>T | |
| ENST00000683269.1:c.559-33C>T | ENSP00000508107.1:n.559-33C>T | |
| ENST00000683647.1:n.4394-33C>T | ||
| ENST00000683783.1:c.559-33C>T | ENSP00000507881.1:n.559-33C>T | |
| ENST00000683813.1:n.788-33C>T | ||
| ENST00000684032.1:c.915-33C>T | ENSP00000506969.1:n.915-33C>T | |
| ENST00000684201.1:c.922-617C>T | ENSP00000507887.1:n.922-617C>T | |
| ENST00000684338.1:c.1060-33C>T | ENSP00000507457.1:n.1060-33C>T | |
| ENST00000684372.1:c.559-33C>T | ENSP00000508244.1:n.559-33C>T | |
| ENST00000684392.1:n.1791-33C>T | ||
| ENST00000684434.1:c.531-33C>T | ||
| ENST00000684546.1:c.559-33C>T | ENSP00000507729.1:n.559-33C>T | |
| ENST00000684690.1:n.841-33C>T | ||
| ENST00000684699.1:n.3193-33C>T | ||
| ENST00000277865.5:c.1060-33C>T MANE Select | ENSP00000277865.4:n.1060-33C>T | |
| ENST00000277865.4:c.1060-33C>T | ENSP00000277865.4:n.1060-33C>T | |
| ENST00000465164.1:n.139-33C>T | ||
| NM_005271.3:c.1060-33C>T | NP_005262.1:n.1060-33C>T | |
| XM_011539668.1:c.559-33C>T | XP_011537970.1:n.559-33C>T | |
| XM_011539669.1:c.559-33C>T | XP_011537971.1:n.559-33C>T | |
| NM_001318900.1:c.661-33C>T | NP_001305829.1:n.661-33C>T | |
| NM_001318901.1:c.559-33C>T | NP_001305830.1:n.559-33C>T | |
| NM_001318902.1:c.559-33C>T | NP_001305831.1:n.559-33C>T | |
| NM_001318904.1:c.559-33C>T | NP_001305833.1:n.559-33C>T | |
| NM_001318905.1:c.559-33C>T | NP_001305834.1:n.559-33C>T | |
| NM_001318906.1:c.559-33C>T | NP_001305835.1:n.559-33C>T | |
| NM_005271.4:c.1060-33C>T | NP_005262.1:n.1060-33C>T | |
| NM_005271.5:c.1060-33C>T MANE Select | NP_005262.1:n.1060-33C>T | |
| NM_001318904.2:c.559-33C>T | NP_001305833.1:n.559-33C>T | |
| NM_001318905.2:c.559-33C>T | NP_001305834.1:n.559-33C>T | |
| NM_001318906.2:c.559-33C>T | NP_001305835.1:n.559-33C>T |