Linked Data
dbSNP Id:
rs769047593
ExAC:
17:38028654 TG / T
gnomAD v2:
17-38028654-TG-T
gnomAD v4:
17-39872401-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39872402del , CM000679.2:g.39872402del | GRCh38 |
| NC_000017.10:g.38028655del , CM000679.1:g.38028655del | GRCh37 |
| NC_000017.9:g.35282181del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348931.9:c.539del MANE Select | ENSP00000335384.5:p.Cys180SerfsTer4 | |
| ENST00000348931.8:c.539del | ENSP00000335384.5:p.Cys180SerfsTer4 | |
| ENST00000377940.3:c.473del | ENSP00000367174.3:p.Cys158SerfsTer4 | |
| ENST00000583811.5:c.185del | ENSP00000462463.1:p.Cys62SerfsTer4 | |
| ENST00000584588.5:c.407-642del | ENSP00000462067.1:n.407-642del | |
| NM_198844.2:c.473del | NP_942141.2:p.Cys158SerfsTer4 | |
| NM_199321.2:c.539del | NP_955353.1:p.Cys180SerfsTer4 | |
| XM_011524298.1:c.539del | XP_011522600.1:p.Cys180SerfsTer4 | |
| XR_002957959.1:n.730del | ||
| NM_198844.3:c.473del | NP_942141.2:p.Cys158SerfsTer4 | |
| NM_199321.3:c.539del MANE Select | NP_955353.1:p.Cys180SerfsTer4 |