Linked Data
dbSNP Id:
rs6726639
gnomAD v2:
2-112753097-A-C
gnomAD v3:
2-111995520-A-C
gnomAD v4:
2-111995520-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111995520A>C , CM000664.2:g.111995520A>C | GRCh38 |
| NC_000002.11:g.112753097A>C , CM000664.1:g.112753097A>C | GRCh37 |
| NC_000002.10:g.112469568A>C | NCBI36 |
| NG_011607.1:g.101907A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295408.9:c.1450+1116A>C MANE Select | ENSP00000295408.4:n.1450+1116A>C | |
| ENST00000295408.8:c.1450+1116A>C | ENSP00000295408.4:n.1450+1116A>C | |
| ENST00000409780.5:c.922+1116A>C | ENSP00000387277.1:n.922+1116A>C | |
| ENST00000421804.6:c.1450+1116A>C | ENSP00000389152.2:n.1450+1116A>C | |
| ENST00000439966.5:c.*923+1116A>C | ENSP00000402129.1:n.*923+1116A>C | |
| ENST00000616902.4:c.299+43A>C | ENSP00000482824.1:n.299+43A>C | |
| NM_006343.2:c.1450+1116A>C | NP_006334.2:n.1450+1116A>C | |
| XM_005263565.3:c.1450+1116A>C | XP_005263622.1:n.1450+1116A>C | |
| XM_005263568.3:c.1450+1116A>C | XP_005263625.1:n.1450+1116A>C | |
| XM_011510490.1:c.1261+1116A>C | XP_011508792.1:n.1261+1116A>C | |
| XM_011510491.1:c.235+1116A>C | XP_011508793.1:n.235+1116A>C | |
| XM_005263565.4:c.1450+1116A>C | XP_005263622.1:n.1450+1116A>C | |
| XM_005263568.4:c.1450+1116A>C | XP_005263625.1:n.1450+1116A>C | |
| XM_011510490.3:c.1261+1116A>C | XP_011508792.1:n.1261+1116A>C | |
| XM_017003164.1:c.1261+1116A>C | XP_016858653.1:n.1261+1116A>C | |
| XM_017003165.2:c.235+1116A>C | XP_016858654.1:n.235+1116A>C | |
| NM_006343.3:c.1450+1116A>C MANE Select | NP_006334.2:n.1450+1116A>C |