Linked Data
ClinVar Variation Id:
576774
dbSNP Id:
rs372220538
ExAC:
2:189915296 G / A
gnomAD v2:
2-189915296-G-A
gnomAD v3:
2-189050570-G-A
gnomAD v4:
2-189050570-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050570G>A , CM000664.2:g.189050570G>A | GRCh38 |
| NC_000002.11:g.189915296G>A , CM000664.1:g.189915296G>A | GRCh37 |
| NC_000002.10:g.189623541G>A | NCBI36 |
| NG_011799.1:g.134310C>T | |
| NG_011799.2:g.134310C>T | |
| NG_011799.3:g.179732C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3038C>T MANE Select | ENSP00000364000.3:p.Ala1013Val | |
| ENST00000374866.7:c.3038C>T | ENSP00000364000.3:p.Ala1013Val | |
| ENST00000618828.1:c.1877C>T | ENSP00000482184.1:p.Ala626Val | |
| NM_000393.3:c.3038C>T | NP_000384.2:p.Ala1013Val | |
| XM_011510573.1:c.2900C>T | XP_011508875.1:p.Ala967Val | |
| NM_000393.4:c.3038C>T | NP_000384.2:p.Ala1013Val | |
| XM_011510573.3:c.2900C>T | XP_011508875.1:p.Ala967Val | |
| NM_000393.5:c.3038C>T MANE Select | NP_000384.2:p.Ala1013Val |