Linked Data
ClinVar Variation Id:
380425
dbSNP Id:
rs762444592
ExAC:
11:1775373 G / A
gnomAD v2:
11-1775373-G-A
gnomAD v3:
11-1754143-G-A
gnomAD v4:
11-1754143-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1754143G>A , CM000673.2:g.1754143G>A | GRCh38 |
| NC_000011.9:g.1775373G>A , CM000673.1:g.1775373G>A | GRCh37 |
| NC_000011.8:g.1731949G>A | NCBI36 |
| NG_008655.1:g.14850C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.828-5C>T MANE Select | ENSP00000236671.2:n.828-5C>T | |
| ENST00000367196.4:c.723-5C>T | ENSP00000356164.4:n.723-5C>T | |
| ENST00000427721.3:c.253-5C>T | ||
| ENST00000429746.2:c.723-5C>T | ENSP00000402586.2:n.723-5C>T | |
| ENST00000433655.6:c.*1-12C>T | ENSP00000404902.1:n.*1-12C>T | |
| ENST00000438213.6:c.940C>T | ENSP00000415036.2:p.Arg314Cys | |
| ENST00000497544.3:n.444-5C>T | ||
| ENST00000636397.1:c.828-5C>T | ENSP00000489910.1:n.828-5C>T | |
| ENST00000636571.1:c.807-5C>T | ENSP00000490770.1:n.807-5C>T | |
| ENST00000636615.1:c.828-5C>T | ENSP00000490014.1:n.828-5C>T | |
| ENST00000636843.1:c.822-5C>T | ENSP00000490897.1:n.822-5C>T | |
| ENST00000637158.1:n.426-5C>T | ||
| ENST00000637381.2:n.3256-5C>T | ||
| ENST00000637387.1:c.828-5C>T | ENSP00000490598.1:n.828-5C>T | |
| ENST00000637815.2:c.810-5C>T | ENSP00000490344.1:n.810-5C>T | |
| ENST00000637915.1:c.828-5C>T | ENSP00000490471.1:n.828-5C>T | |
| ENST00000637937.1:n.136-5C>T | ||
| ENST00000678991.1:c.*689-5C>T | ENSP00000503019.1:n.*689-5C>T | |
| ENST00000236671.6:c.828-5C>T | ENSP00000236671.2:n.828-5C>T | |
| ENST00000427721.2:c.228-5C>T | ENSP00000415840.2:n.228-5C>T | |
| ENST00000429746.1:c.154C>T | ENSP00000402586.1:p.Arg52Cys | |
| ENST00000433655.5:c.*1-12C>T | ENSP00000404902.1:n.*1-12C>T | |
| ENST00000438213.5:c.783-5C>T | ENSP00000415036.1:n.783-5C>T | |
| ENST00000497544.1:n.444-5C>T | ||
| NM_001909.4:c.828-5C>T | NP_001900.1:n.828-5C>T | |
| NM_001909.5:c.828-5C>T MANE Select | NP_001900.1:n.828-5C>T |