Linked Data
ClinVar Variation Id:
258190
dbSNP Id:
rs45539936
ExAC:
11:88045737 G / A
gnomAD v2:
11-88045737-G-A
gnomAD v3:
11-88312569-G-A
gnomAD v4:
11-88312569-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88312569G>A , CM000673.2:g.88312569G>A | GRCh38 |
| NC_000011.9:g.88045737G>A , CM000673.1:g.88045737G>A | GRCh37 |
| NC_000011.8:g.87685385G>A | NCBI36 |
| NG_007952.1:g.30205C>T , LRG_50:g.30205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.319-15C>T MANE Select | ENSP00000227266.4:n.319-15C>T | |
| ENST00000527018.6:c.319-15C>T | ENSP00000432556.2:n.319-15C>T | |
| ENST00000533897.2:n.367-15C>T | ||
| ENST00000676612.1:c.*126-15C>T | ENSP00000504440.1:n.*126-15C>T | |
| ENST00000677208.1:c.319-3251C>T | ENSP00000504347.1:n.319-3251C>T | |
| ENST00000677661.1:c.404-15C>T | ENSP00000503323.1:n.404-15C>T | |
| ENST00000677802.1:c.404-15C>T | ENSP00000504115.1:n.404-15C>T | |
| ENST00000678395.1:c.319-15C>T | ENSP00000503123.1:n.319-15C>T | |
| ENST00000678464.1:c.319-15C>T | ENSP00000503046.1:n.319-15C>T | |
| ENST00000678506.1:c.319-15C>T | ENSP00000503580.1:n.319-15C>T | |
| ENST00000678520.1:c.*126-15C>T | ENSP00000503361.1:n.*126-15C>T | |
| ENST00000678554.1:c.319-15C>T | ENSP00000504541.1:n.319-15C>T | |
| ENST00000678915.1:c.319-15C>T | ENSP00000504805.1:n.319-15C>T | |
| ENST00000679224.1:c.-45-15C>T | ENSP00000504475.1:n.-45-15C>T | |
| ENST00000227266.9:c.319-15C>T | ENSP00000227266.4:n.319-15C>T | |
| ENST00000527018.5:c.189-15C>T | ||
| ENST00000533865.5:n.341-15C>T | ||
| NM_001814.4:c.319-15C>T , LRG_50t1:c.319-15C>T | NP_001805.3:n.319-15C>T | |
| NM_001814.5:c.319-15C>T | NP_001805.3:n.319-15C>T | |
| NM_001814.6:c.319-15C>T MANE Select | NP_001805.4:n.319-15C>T |