Linked Data
ClinVar Variation Id:
2185537
ClinVar RCV Id:
RCV002596198
dbSNP Id:
rs864309551
gnomAD v2:
1-24175217-C-A
gnomAD v3:
1-23848727-C-A
gnomAD v4:
1-23848727-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848727C>A , CM000663.2:g.23848727C>A | GRCh38 |
| NC_000001.10:g.24175217C>A , CM000663.1:g.24175217C>A | GRCh37 |
| NC_000001.9:g.24047804C>A | NCBI36 |
| NG_013346.1:g.24643G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1082G>T MANE Select | ENSP00000363603.3:p.Trp361Leu | |
| ENST00000374479.3:c.1082G>T | ENSP00000363603.3:p.Trp361Leu | |
| NM_000147.4:c.1082G>T | NP_000138.2:p.Trp361Leu | |
| XM_005245821.1:c.707G>T | XP_005245878.1:p.Trp236Leu | |
| XM_011541167.1:c.449G>T | XP_011539469.1:p.Trp150Leu | |
| XM_005245821.3:c.707G>T | XP_005245878.1:p.Trp236Leu | |
| XM_011541167.3:c.449G>T | XP_011539469.1:p.Trp150Leu | |
| XM_017000905.2:c.779G>T | XP_016856394.1:p.Trp260Leu | |
| NM_000147.5:c.1082G>T MANE Select | NP_000138.2:p.Trp361Leu | |
| NR_174379.1:n.1260G>T | ||
| NR_174380.1:n.1309G>T | ||
| NR_174381.1:n.1148G>T | ||
| NR_174382.1:n.1545G>T |