Linked Data
ClinVar Variation Id:
56509
dbSNP Id:
rs386833947
ExAC:
19:36341871 ATGG / A
gnomAD v2:
19-36341871-ATGG-A
gnomAD v3:
19-35850969-ATGG-A
gnomAD v4:
19-35850969-ATGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35850972_35850974del , CM000681.2:g.35850972_35850974del | GRCh38 |
| NC_000019.9:g.36341874_36341876del , CM000681.1:g.36341874_36341876del | GRCh37 |
| NC_000019.8:g.41033714_41033716del | NCBI36 |
| NG_013356.2:g.23316_23318del , LRG_693:g.23316_23318del | |
| NG_051206.1:g.4338_4340del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378910.10:c.515_517del MANE Select | ENSP00000368190.4:p.Thr172del | |
| ENST00000353632.6:c.515_517del | ENSP00000343634.5:p.Thr172del | |
| ENST00000378910.9:c.515_517del | ENSP00000368190.4:p.Thr172del | |
| NM_004646.3:c.515_517del , LRG_693t1:c.515_517del | NP_004637.1:p.Thr172del | |
| NM_004646.4:c.515_517del MANE Select | NP_004637.1:p.Thr172del |