Linked Data
ClinVar Variation Id:
515029
dbSNP Id:
rs1008907564
gnomAD v2:
15-23049021-G-A
gnomAD v3:
15-22824047-C-T
gnomAD v4:
15-22824047-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22824047C>T , CM000677.2:g.22824047C>T | GRCh38 |
| NC_000015.9:g.23049021G>A , CM000677.1:g.23049021G>A | GRCh37 |
| NC_000015.8:g.20600462G>A | NCBI36 |
| NG_009056.1:g.42823C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337435.9:c.798C>T MANE Select | ENSP00000337452.4:p.Val266= | |
| ENST00000337435.8:c.798C>T | ENSP00000337452.4:p.Val266= | |
| ENST00000437912.6:c.573C>T | ENSP00000393962.2:p.Val191= | |
| ENST00000559448.5:c.770C>T | ||
| ENST00000561183.5:c.573C>T | ENSP00000453722.1:p.Val191= | |
| NM_001142275.1:c.573C>T | NP_001135747.1:p.Val191= | |
| NM_144599.4:c.798C>T | NP_653200.2:p.Val266= | |
| NM_144599.5:c.798C>T MANE Select | NP_653200.2:p.Val266= |