Linked Data
dbSNP Id:
rs1222805125
gnomAD v2:
11-5275808-G-A
gnomAD v3:
11-5254578-G-A
gnomAD v4:
11-5254578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254578G>A , CM000673.2:g.5254578G>A | GRCh38 |
| NC_000011.9:g.5275808G>A , CM000673.1:g.5275808G>A | GRCh37 |
| NC_000011.8:g.5232384G>A | NCBI36 |
| NG_000007.3:g.43038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.92+59C>T MANE Select | ENSP00000338082.4:n.92+59C>T | |
| ENST00000380252.6:c.-73-64C>T | ENSP00000369602.2:n.-73-64C>T | |
| ENST00000380259.7:c.1638+59C>T | ENSP00000369609.3:n.1638+59C>T | |
| ENST00000642908.1:c.92+59C>T | ENSP00000495346.1:n.92+59C>T | |
| ENST00000647543.1:c.92+59C>T | ENSP00000496470.1:n.92+59C>T | |
| ENST00000336906.4:c.92+59C>T | ENSP00000338082.4:n.92+59C>T | |
| ENST00000380252.5:c.63-64C>T | ENSP00000369602.1:n.63-64C>T | |
| ENST00000380259.6:c.92+59C>T | ENSP00000369609.2:n.92+59C>T | |
| ENST00000444587.1:c.55-64C>T | ENSP00000488218.1:n.55-64C>T | |
| ENST00000620888.4:c.92+59C>T | ENSP00000479637.1:n.92+59C>T | |
| ENST00000624109.1:c.265-58G>A | ENSP00000485458.1:n.265-58G>A | |
| NM_000184.2:c.92+59C>T | NP_000175.1:n.92+59C>T | |
| NM_000184.3:c.92+59C>T MANE Select | NP_000175.1:n.92+59C>T |