Linked Data
ClinVar Variation Id:
516227
dbSNP Id:
rs72835680
ExAC:
17:39969549 C / T
gnomAD v2:
17-39969549-C-T
gnomAD v3:
17-41813297-C-T
gnomAD v4:
17-41813297-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41813297C>T , CM000679.2:g.41813297C>T | GRCh38 |
| NC_000017.10:g.39969549C>T , CM000679.1:g.39969549C>T | GRCh37 |
| NC_000017.9:g.37223075C>T | NCBI36 |
| NG_015860.1:g.5588C>T , LRG_12:g.5588C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706683.1:c.245+18C>T | ENSP00000516497.1:n.245+18C>T | |
| ENST00000321562.9:c.245+18C>T MANE Select | ENSP00000317232.4:n.245+18C>T | |
| ENST00000321562.8:c.245+18C>T | ENSP00000317232.4:n.245+18C>T | |
| ENST00000429461.5:c.65+18C>T | ENSP00000408232.1:n.65+18C>T | |
| ENST00000489591.5:c.245+18C>T | ENSP00000466352.1:n.245+18C>T | |
| ENST00000585664.5:c.65+18C>T | ENSP00000468703.1:n.65+18C>T | |
| ENST00000585922.5:c.245+18C>T | ENSP00000466097.1:n.245+18C>T | |
| NM_021939.3:c.245+18C>T , LRG_12t1:c.245+18C>T | NP_068758.3:n.245+18C>T | |
| XM_011525099.1:c.245+18C>T | XP_011523401.1:n.245+18C>T | |
| XM_011525100.1:c.118+18C>T | XP_011523402.1:n.118+18C>T | |
| XM_011525099.3:c.245+18C>T | XP_011523401.1:n.245+18C>T | |
| XM_011525100.2:c.118+18C>T | XP_011523402.1:n.118+18C>T | |
| NM_021939.4:c.245+18C>T MANE Select | NP_068758.3:n.245+18C>T |