Linked Data
ClinVar Variation Id:
488519
ClinVar RCV Id:
RCV000578267
dbSNP Id:
rs189315801
gnomAD v4:
1-23863232-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23863232C>T , CM000663.2:g.23863232C>T | GRCh38 |
| NC_000001.10:g.24189722C>T , CM000663.1:g.24189722C>T | GRCh37 |
| NC_000001.9:g.24062309C>T | NCBI36 |
| NG_013346.1:g.10138G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.564G>A MANE Select | ENSP00000363603.3:p.Trp188Ter | |
| ENST00000374479.3:c.564G>A | ENSP00000363603.3:p.Trp188Ter | |
| NM_000147.4:c.564G>A | NP_000138.2:p.Trp188Ter | |
| XM_005245821.1:c.189G>A | XP_005245878.1:p.Trp63Ter | |
| XM_011541167.1:c.-70G>A | XP_011539469.1:n.-70G>A | |
| XM_005245821.3:c.189G>A | XP_005245878.1:p.Trp63Ter | |
| XM_011541167.3:c.-70G>A | XP_011539469.1:n.-70G>A | |
| XM_017000905.2:c.261G>A | XP_016856394.1:p.Trp87Ter | |
| NM_000147.5:c.564G>A MANE Select | NP_000138.2:p.Trp188Ter | |
| NR_174379.1:n.742G>A | ||
| NR_174380.1:n.791G>A | ||
| NR_174381.1:n.630G>A | ||
| NR_174382.1:n.1027G>A |