Linked Data
ClinVar Variation Id:
167181
dbSNP Id:
rs786200980
gnomAD v4:
X-134475252-A-AG
MyVariant Identifiers:
chrX:g.133609288dup (hg19)
chrX:g.133609288dupG (hg19)
chrX:g.134475258dupG (hg38)
PubMed:
PMID:23975452
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134475258dup , CM000685.2:g.134475258dup | GRCh38 |
| NC_000023.10:g.133609288dup , CM000685.1:g.133609288dup | GRCh37 |
| NC_000023.9:g.133436954dup | NCBI36 |
| NG_012329.1:g.20114dup | |
| NG_012329.2:g.20114dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298556.8:c.212dup MANE Select | ENSP00000298556.7:p.Tyr72LeufsTer2 | |
| ENST00000298556.7:c.212dup | ENSP00000298556.7:p.Tyr72LeufsTer2 | |
| ENST00000462974.5:n.370dup | ||
| ENST00000475720.1:n.170dup | ||
| NM_000194.2:c.212dup | NP_000185.1:p.Tyr72LeufsTer2 | |
| XM_011531328.1:c.230dup | XP_011529630.1:p.Tyr78LeufsTer2 | |
| NM_000194.3:c.212dup MANE Select | NP_000185.1:p.Tyr72LeufsTer2 |