Linked Data
ClinVar Variation Id:
130534
dbSNP Id:
rs73490287
ExAC:
16:2549352 C / T
gnomAD v2:
16-2549352-C-T
gnomAD v3:
16-2499351-C-T
gnomAD v4:
16-2499351-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2499351C>T , CM000678.2:g.2499351C>T | GRCh38 |
| NC_000016.9:g.2549352C>T , CM000678.1:g.2549352C>T | GRCh37 |
| NC_000016.8:g.2489353C>T | NCBI36 |
| NG_028170.1:g.29206C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562105.2:c.1143-6C>T | ENSP00000457896.2:n.1143-6C>T | |
| ENST00000567020.6:c.1125-6C>T | ENSP00000454408.1:n.1125-6C>T | |
| ENST00000569874.2:c.1125-6C>T | ENSP00000455005.2:n.1125-6C>T | |
| ENST00000643767.1:c.1125-6C>T | ENSP00000494145.1:n.1125-6C>T | |
| ENST00000646147.1:c.1143-6C>T MANE Select | ENSP00000494678.1:n.1143-6C>T | |
| ENST00000293970.9:c.1143-6C>T | ENSP00000293970.5:n.1143-6C>T | |
| ENST00000564543.1:c.965+2238C>T | ENSP00000455547.1:n.965+2238C>T | |
| ENST00000564879.2:c.76-484C>T | ||
| ENST00000567020.5:c.1125-6C>T | ENSP00000454408.1:n.1125-6C>T | |
| ENST00000627285.1:c.1125-6C>T | ENSP00000486121.1:n.1125-6C>T | |
| ENST00000630263.2:c.*101-6C>T | ENSP00000486835.1:n.*101-6C>T | |
| NM_001199107.1:c.1143-6C>T | NP_001186036.1:n.1143-6C>T | |
| NM_020705.2:c.1125-6C>T | NP_065756.1:n.1125-6C>T | |
| XM_017023493.1:c.1143-6C>T | XP_016878982.1:n.1143-6C>T | |
| XM_017023494.1:c.1125-6C>T | XP_016878983.1:n.1125-6C>T | |
| XM_017023495.1:c.1125-6C>T | XP_016878984.1:n.1125-6C>T | |
| XR_001751956.1:n.1325-6C>T | ||
| NM_001199107.2:c.1143-6C>T MANE Select | NP_001186036.1:n.1143-6C>T | |
| NM_020705.3:c.1125-6C>T | NP_065756.1:n.1125-6C>T |