Linked Data
ClinVar Variation Id:
264533
ClinVar RCV Id:
RCV002311204
dbSNP Id:
rs755085498
gnomAD v4:
15-48472571-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48472571G>A , CM000677.2:g.48472571G>A | GRCh38 |
| NC_000015.9:g.48764768G>A , CM000677.1:g.48764768G>A | GRCh37 |
| NC_000015.8:g.46552060G>A | NCBI36 |
| NG_008805.2:g.178218C>T , LRG_778:g.178218C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4316C>T | ENSP00000453958.2:p.Ala1439Val | |
| ENST00000674301.2:c.4316C>T | ENSP00000501333.2:p.Ala1439Val | |
| ENST00000683268.1:n.283C>T | ||
| ENST00000684448.1:n.2990C>T | ||
| ENST00000316623.10:c.4316C>T MANE Select | ENSP00000325527.5:p.Ala1439Val | |
| ENST00000316623.9:c.4316C>T | ENSP00000325527.5:p.Ala1439Val | |
| ENST00000537463.6:c.*79C>T | ENSP00000440294.2:n.*79C>T | |
| NM_000138.4:c.4316C>T , LRG_778t1:c.4316C>T | NP_000129.3:p.Ala1439Val | |
| NM_000138.5:c.4316C>T MANE Select | NP_000129.3:p.Ala1439Val |