Linked Data
dbSNP Id:
rs756341664
ExAC:
10:88820586 C / G
gnomAD v2:
10-88820586-C-G
gnomAD v4:
10-87060829-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87060829C>G , CM000672.2:g.87060829C>G | GRCh38 |
| NC_000010.10:g.88820586C>G , CM000672.1:g.88820586C>G | GRCh37 |
| NC_000010.9:g.88810566C>G | NCBI36 |
| NG_013010.1:g.39191G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474574.2:n.2635-4G>C | ||
| ENST00000487058.2:n.357G>C | ||
| ENST00000681987.1:n.898-4G>C | ||
| ENST00000681988.1:c.559-4G>C | ENSP00000507316.1:n.559-4G>C | |
| ENST00000682396.1:c.1051-4G>C | ENSP00000506764.1:n.1051-4G>C | |
| ENST00000682507.1:c.559-4G>C | ENSP00000508098.1:n.559-4G>C | |
| ENST00000682622.1:c.1340-4G>C | ENSP00000506732.1:n.1340-4G>C | |
| ENST00000682833.1:c.895-4G>C | ||
| ENST00000683022.1:c.1081-4G>C | ||
| ENST00000683256.1:c.559-4G>C | ENSP00000507901.1:n.559-4G>C | |
| ENST00000683269.1:c.559-4G>C | ENSP00000508107.1:n.559-4G>C | |
| ENST00000683647.1:n.4394-4G>C | ||
| ENST00000683783.1:c.559-4G>C | ENSP00000507881.1:n.559-4G>C | |
| ENST00000683813.1:n.788-4G>C | ||
| ENST00000684032.1:c.915-4G>C | ENSP00000506969.1:n.915-4G>C | |
| ENST00000684201.1:c.922-588G>C | ENSP00000507887.1:n.922-588G>C | |
| ENST00000684338.1:c.1060-4G>C | ENSP00000507457.1:n.1060-4G>C | |
| ENST00000684372.1:c.559-4G>C | ENSP00000508244.1:n.559-4G>C | |
| ENST00000684392.1:n.1791-4G>C | ||
| ENST00000684434.1:c.531-4G>C | ||
| ENST00000684546.1:c.559-4G>C | ENSP00000507729.1:n.559-4G>C | |
| ENST00000684690.1:n.841-4G>C | ||
| ENST00000684699.1:n.3193-4G>C | ||
| ENST00000277865.5:c.1060-4G>C MANE Select | ENSP00000277865.4:n.1060-4G>C | |
| ENST00000277865.4:c.1060-4G>C | ENSP00000277865.4:n.1060-4G>C | |
| ENST00000465164.1:n.139-4G>C | ||
| NM_005271.3:c.1060-4G>C | NP_005262.1:n.1060-4G>C | |
| XM_011539668.1:c.559-4G>C | XP_011537970.1:n.559-4G>C | |
| XM_011539669.1:c.559-4G>C | XP_011537971.1:n.559-4G>C | |
| NM_001318900.1:c.661-4G>C | NP_001305829.1:n.661-4G>C | |
| NM_001318901.1:c.559-4G>C | NP_001305830.1:n.559-4G>C | |
| NM_001318902.1:c.559-4G>C | NP_001305831.1:n.559-4G>C | |
| NM_001318904.1:c.559-4G>C | NP_001305833.1:n.559-4G>C | |
| NM_001318905.1:c.559-4G>C | NP_001305834.1:n.559-4G>C | |
| NM_001318906.1:c.559-4G>C | NP_001305835.1:n.559-4G>C | |
| NM_005271.4:c.1060-4G>C | NP_005262.1:n.1060-4G>C | |
| NM_005271.5:c.1060-4G>C MANE Select | NP_005262.1:n.1060-4G>C | |
| NM_001318904.2:c.559-4G>C | NP_001305833.1:n.559-4G>C | |
| NM_001318905.2:c.559-4G>C | NP_001305834.1:n.559-4G>C | |
| NM_001318906.2:c.559-4G>C | NP_001305835.1:n.559-4G>C |