Linked Data
ClinVar Variation Id:
527761
dbSNP Id:
rs746243061
ExAC:
11:1775215 G / A
gnomAD v2:
11-1775215-G-A
gnomAD v3:
11-1753985-G-A
gnomAD v4:
11-1753985-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753985G>A , CM000673.2:g.1753985G>A | GRCh38 |
| NC_000011.9:g.1775215G>A , CM000673.1:g.1775215G>A | GRCh37 |
| NC_000011.8:g.1731791G>A | NCBI36 |
| NG_008655.1:g.15008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.972+9C>T MANE Select | ENSP00000236671.2:n.972+9C>T | |
| ENST00000367196.4:c.867+9C>T | ENSP00000356164.4:n.867+9C>T | |
| ENST00000427721.3:c.397+9C>T | ||
| ENST00000429746.2:c.867+9C>T | ENSP00000402586.2:n.867+9C>T | |
| ENST00000433655.6:c.*138+9C>T | ENSP00000404902.1:n.*138+9C>T | |
| ENST00000438213.6:c.1089+9C>T | ENSP00000415036.2:n.1089+9C>T | |
| ENST00000497544.3:n.597C>T | ||
| ENST00000636397.1:c.972+9C>T | ENSP00000489910.1:n.972+9C>T | |
| ENST00000636571.1:c.951+9C>T | ENSP00000490770.1:n.951+9C>T | |
| ENST00000636615.1:c.972+9C>T | ENSP00000490014.1:n.972+9C>T | |
| ENST00000636843.1:c.966+9C>T | ENSP00000490897.1:n.966+9C>T | |
| ENST00000637158.1:n.570+9C>T | ||
| ENST00000637381.2:n.3400+9C>T | ||
| ENST00000637387.1:c.972+9C>T | ENSP00000490598.1:n.972+9C>T | |
| ENST00000637815.2:c.954+9C>T | ENSP00000490344.1:n.954+9C>T | |
| ENST00000637915.1:c.972+9C>T | ENSP00000490471.1:n.972+9C>T | |
| ENST00000637937.1:n.280+9C>T | ||
| ENST00000678991.1:c.*833+9C>T | ENSP00000503019.1:n.*833+9C>T | |
| ENST00000236671.6:c.972+9C>T | ENSP00000236671.2:n.972+9C>T | |
| ENST00000427721.2:c.372+9C>T | ENSP00000415840.2:n.372+9C>T | |
| ENST00000429746.1:c.303+9C>T | ENSP00000402586.1:n.303+9C>T | |
| ENST00000433655.5:c.*138+9C>T | ENSP00000404902.1:n.*138+9C>T | |
| ENST00000497544.1:n.597C>T | ||
| NM_001909.4:c.972+9C>T | NP_001900.1:n.972+9C>T | |
| NM_001909.5:c.972+9C>T MANE Select | NP_001900.1:n.972+9C>T |