Linked Data
dbSNP Id:
rs768104159
ExAC:
1:215901603 A / AC
gnomAD v2:
1-215901603-A-AC
gnomAD v4:
1-215728261-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728262dup , CM000663.2:g.215728262dup | GRCh38 |
| NC_000001.10:g.215901604dup , CM000663.1:g.215901604dup | GRCh37 |
| NC_000001.9:g.213968227dup | NCBI36 |
| NG_009497.1:g.700135dup | |
| NG_009497.2:g.700187dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11834dup MANE Select | ENSP00000305941.3:p.Cys3945TrpfsTer2 | |
| ENST00000674083.1:c.11834dup | ENSP00000501296.1:p.Cys3945TrpfsTer2 | |
| ENST00000307340.7:c.11834dup | ENSP00000305941.3:p.Cys3945TrpfsTer2 | |
| NM_206933.2:c.11834dup | NP_996816.2:p.Cys3945TrpfsTer2 | |
| NM_206933.3:c.11834dup | NP_996816.2:p.Cys3945TrpfsTer2 | |
| NM_206933.4:c.11834dup MANE Select | NP_996816.3:p.Cys3945TrpfsTer2 |