Linked Data
ClinVar Variation Id:
3011147
ClinVar RCV Id:
RCV003869810
dbSNP Id:
rs1229915575
gnomAD v2:
1-209803999-A-AG
gnomAD v4:
1-209630654-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209630657dup , CM000663.2:g.209630657dup | GRCh38 |
| NC_000001.10:g.209804002dup , CM000663.1:g.209804002dup | GRCh37 |
| NC_000001.9:g.207870625dup | NCBI36 |
| NG_007116.1:g.26821dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.903dup MANE Select | ENSP00000348384.3:p.Trp302LeufsTer11 | |
| ENST00000356082.8:c.903dup | ENSP00000348384.3:p.Trp302LeufsTer11 | |
| ENST00000367030.7:c.903dup | ENSP00000355997.3:p.Trp302LeufsTer11 | |
| ENST00000391911.5:c.903dup | ENSP00000375778.1:p.Trp302LeufsTer11 | |
| NM_000228.2:c.903dup | NP_000219.2:p.Trp302LeufsTer11 | |
| NM_001017402.1:c.903dup | NP_001017402.1:p.Trp302LeufsTer11 | |
| NM_001127641.1:c.903dup | NP_001121113.1:p.Trp302LeufsTer11 | |
| XM_005273124.3:c.903dup | XP_005273181.1:p.Trp302LeufsTer11 | |
| XM_005273124.4:c.903dup | XP_005273181.1:p.Trp302LeufsTer11 | |
| XM_017001272.2:c.711dup | XP_016856761.1:p.Trp238LeufsTer11 | |
| NM_000228.3:c.903dup MANE Select | NP_000219.2:p.Trp302LeufsTer11 | |
| NM_001017402.2:c.903dup | NP_001017402.1:p.Trp302LeufsTer11 |