Linked Data
ClinVar Variation Id:
193035
ClinVar RCV Id:
RCV000173053
dbSNP Id:
rs797044611
gnomAD v4:
X-153726152-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153726152T>C , CM000685.2:g.153726152T>C | GRCh38 |
| NC_000023.10:g.152991607T>C , CM000685.1:g.152991607T>C | GRCh37 |
| NC_000023.9:g.152644801T>C | NCBI36 |
| NG_009022.2:g.6285T>C | |
| NG_023231.1:g.3595A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218104.6:c.886T>C MANE Select | ENSP00000218104.3:p.Tyr296His | |
| ENST00000218104.5:c.886T>C | ENSP00000218104.3:p.Tyr296His | |
| ENST00000370129.4:c.331T>C | ENSP00000359147.3:p.Tyr111His | |
| NM_000033.3:c.886T>C | NP_000024.2:p.Tyr296His | |
| XR_938507.1:n.1302T>C | ||
| XR_938507.2:n.1302T>C | ||
| NM_000033.4:c.886T>C MANE Select | NP_000024.2:p.Tyr296His |