Linked Data
ClinVar Variation Id:
1737367
ClinVar RCV Id:
RCV002321286
dbSNP Id:
rs201058219
gnomAD v3:
15-48474565-G-A
gnomAD v4:
15-48474565-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48474565G>A , CM000677.2:g.48474565G>A | GRCh38 |
| NC_000015.9:g.48766762G>A , CM000677.1:g.48766762G>A | GRCh37 |
| NC_000015.8:g.46554054G>A | NCBI36 |
| NG_008805.2:g.176224C>T , LRG_778:g.176224C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.4050C>T | ENSP00000453958.2:p.Cys1350= | |
| ENST00000674301.2:c.4050C>T | ENSP00000501333.2:p.Cys1350= | |
| ENST00000684448.1:n.2724C>T | ||
| ENST00000316623.10:c.4050C>T MANE Select | ENSP00000325527.5:p.Cys1350= | |
| ENST00000316623.9:c.4050C>T | ENSP00000325527.5:p.Cys1350= | |
| ENST00000537463.6:c.722C>T | ENSP00000440294.2:p.Ala241Val | |
| NM_000138.4:c.4050C>T , LRG_778t1:c.4050C>T | NP_000129.3:p.Cys1350= | |
| NM_000138.5:c.4050C>T MANE Select | NP_000129.3:p.Cys1350= |