Linked Data
ClinVar Variation Id:
1770720
ClinVar RCV Id:
RCV002383377
dbSNP Id:
rs763341676
gnomAD v2:
2-21224718-G-A
gnomAD v3:
2-21001846-G-A
gnomAD v4:
2-21001846-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21001846G>A , CM000664.2:g.21001846G>A | GRCh38 |
| NC_000002.11:g.21224718G>A , CM000664.1:g.21224718G>A | GRCh37 |
| NC_000002.10:g.21078223G>A | NCBI36 |
| NG_011793.1:g.47228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13576C>T MANE Select | ENSP00000233242.1:p.Gln4526Ter | |
| ENST00000616098.4:c.13574C>T | ENSP00000477990.1:n.13574C>T | |
| NM_000384.2:c.13576C>T | NP_000375.2:p.Gln4526Ter | |
| XM_011532809.1:c.5870-2573C>T | XP_011531111.1:n.5870-2573C>T | |
| NM_000384.3:c.13576C>T MANE Select | NP_000375.3:p.Gln4526Ter |