Linked Data
ClinVar Variation Id:
1459874
ClinVar RCV Id:
RCV001951301
dbSNP Id:
rs1556091855
gnomAD v4:
X-22190447-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22190447G>A , CM000685.2:g.22190447G>A | GRCh38 |
| NC_000023.10:g.22208564G>A , CM000685.1:g.22208564G>A | GRCh37 |
| NC_000023.9:g.22118485G>A | NCBI36 |
| NG_007563.2:g.162644G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682888.1:c.144G>A | ENSP00000508003.1:p.Trp48Ter | |
| ENST00000683162.1:c.144G>A | ENSP00000508059.1:p.Trp48Ter | |
| ENST00000683289.1:c.144G>A | ENSP00000508195.1:p.Trp48Ter | |
| ENST00000683917.1:n.374G>A | ||
| ENST00000684356.1:c.144G>A | ENSP00000507619.1:p.Trp48Ter | |
| ENST00000684745.1:n.1264G>A | ||
| ENST00000379374.5:c.1590G>A MANE Select | ENSP00000368682.4:p.Trp530Ter | |
| ENST00000379374.4:c.1590G>A | ENSP00000368682.4:p.Trp530Ter | |
| NM_000444.5:c.1590G>A | NP_000435.3:p.Trp530Ter | |
| NM_001282754.1:c.1590G>A | NP_001269683.1:p.Trp530Ter | |
| XM_011545533.1:c.834G>A | XP_011543835.1:p.Trp278Ter | |
| XM_011545534.1:c.834G>A | XP_011543836.1:p.Trp278Ter | |
| XM_011545536.1:c.483G>A | XP_011543838.1:p.Trp161Ter | |
| XM_011545536.2:c.483G>A | XP_011543838.1:p.Trp161Ter | |
| XM_017029579.1:c.834G>A | XP_016885068.1:p.Trp278Ter | |
| XM_024452390.1:c.1299G>A | XP_024308158.1:p.Trp433Ter | |
| XR_001755695.1:n.2430G>A | ||
| NM_000444.6:c.1590G>A MANE Select | NP_000435.3:p.Trp530Ter | |
| NM_001282754.2:c.1590G>A | NP_001269683.1:p.Trp530Ter |