Linked Data
ClinVar Variation Id:
955604
ClinVar RCV Id:
RCV001228275
dbSNP Id:
rs753730055
gnomAD v4:
17-36537700-C-T
MyVariant Identifiers:
chr17:g.36537700C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.36537700C>T , CM000679.2:g.36537700C>T | GRCh38 |
| NC_000017.9:g.31967662C>T | NCBI36 |
| NG_052004.1:g.7939C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614443.2:c.599C>T (PIGW) MANE Select | ENSP00000482202.1:p.Thr200Ile | |
| ENST00000610496.1:n.396-3596G>A (MYO19) | ||
| ENST00000614443.1:c.599C>T (PIGW) | ENSP00000482202.1:p.Thr200Ile | |
| ENST00000617167.1:n.164-2067G>A (MYO19) | ||
| ENST00000619326.1:c.599C>T (PIGW) | ENSP00000480475.1:p.Thr200Ile | |
| ENST00000620233.1:c.599C>T (PIGW) | ENSP00000480021.1:p.Thr200Ile | |
| NM_178517.3:c.599C>T (PIGW) | NP_848612.2:p.Thr200Ile | |
| XM_005257238.1:c.599C>T (PIGW) | XP_005257295.1:p.Thr200Ile | |
| XM_011524646.1:c.599C>T (PIGW) | XP_011522948.1:p.Thr200Ile | |
| NM_001346754.1:c.599C>T (PIGW) | NP_001333683.1:p.Thr200Ile | |
| NM_001346755.1:c.599C>T (PIGW) | NP_001333684.1:p.Thr200Ile | |
| NM_178517.4:c.599C>T (PIGW) | NP_848612.2:p.Thr200Ile | |
| NM_001346754.2:c.599C>T (PIGW) MANE Select | NP_001333683.1:p.Thr200Ile | |
| NM_001346755.2:c.599C>T (PIGW) | NP_001333684.1:p.Thr200Ile | |
| NM_178517.5:c.599C>T (PIGW) | NP_848612.2:p.Thr200Ile |