Linked Data
ClinVar Variation Id:
91521
dbSNP Id:
rs11571819
ExAC:
13:32968818 C / T
gnomAD v2:
13-32968818-C-T
gnomAD v3:
13-32394681-C-T
gnomAD v4:
13-32394681-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394681C>T , CM000675.2:g.32394681C>T | GRCh38 |
| NC_000013.10:g.32968818C>T , CM000675.1:g.32968818C>T | GRCh37 |
| NC_000013.9:g.31866818C>T | NCBI36 |
| NG_012772.3:g.84202C>T , LRG_293:g.84202C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9257-8C>T | ENSP00000434898.2:n.9257-8C>T | |
| ENST00000528762.2:c.*624-8C>T | ENSP00000433168.2:n.*624-8C>T | |
| ENST00000530893.7:c.8888-8C>T | ENSP00000499438.2:n.8888-8C>T | |
| ENST00000665585.2:c.*819-8C>T | ENSP00000499570.2:n.*819-8C>T | |
| ENST00000666593.2:c.*102-8C>T | ENSP00000499256.2:n.*102-8C>T | |
| ENST00000700202.2:c.9206-8C>T | ENSP00000514856.2:n.9206-8C>T | |
| ENST00000700202.1:c.1673-8C>T | ENSP00000514856.1:n.1673-8C>T | |
| ENST00000700203.1:n.1384-8C>T | ||
| ENST00000380152.8:c.9257-8C>T MANE Select | ENSP00000369497.3:n.9257-8C>T | |
| ENST00000544455.6:c.9257-8C>T | ENSP00000439902.1:n.9257-8C>T | |
| ENST00000614259.2:c.9265-8C>T | ENSP00000506251.1:n.9265-8C>T | |
| ENST00000665585.1:c.2135-8C>T | ||
| ENST00000666593.1:c.279-8C>T | ENSP00000499256.1:n.279-8C>T | |
| ENST00000680887.1:c.9257-8C>T | ENSP00000505508.1:n.9257-8C>T | |
| ENST00000380152.7:c.9257-8C>T | ENSP00000369497.3:n.9257-8C>T | |
| ENST00000470094.1:c.214-8C>T | ||
| ENST00000544455.5:c.9257-8C>T | ENSP00000439902.1:n.9257-8C>T | |
| NM_000059.3:c.9257-8C>T , LRG_293t1:c.9257-8C>T | NP_000050.2:n.9257-8C>T | |
| XM_011535203.1:c.9257-8C>T | XP_011533505.1:n.9257-8C>T | |
| XM_011535204.1:c.9161-8C>T | XP_011533506.1:n.9161-8C>T | |
| NM_000059.4:c.9257-8C>T MANE Select | NP_000050.3:n.9257-8C>T |