Linked Data
dbSNP Id:
rs753512757
ExAC:
4:74308078 C / T
gnomAD v2:
4-74308078-C-T
gnomAD v4:
4-73442361-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73442361C>T , CM000666.2:g.73442361C>T | GRCh38 |
| NC_000004.11:g.74308078C>T , CM000666.1:g.74308078C>T | GRCh37 |
| NC_000004.10:g.74526942C>T | NCBI36 |
| NG_023028.1:g.11146C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395792.7:c.548C>T MANE Select | ENSP00000379138.2:p.Ala183Val | |
| ENST00000226359.2:c.548C>T | ENSP00000226359.2:p.Ala183Val | |
| ENST00000395792.6:c.548C>T | ENSP00000379138.2:p.Ala183Val | |
| NM_001134.2:c.548C>T | NP_001125.1:p.Ala183Val | |
| XM_011531704.1:c.545C>T | XP_011530006.1:p.Ala182Val | |
| NM_001354717.1:c.74C>T | NP_001341646.1:p.Ala25Val | |
| NM_001134.3:c.548C>T MANE Select | NP_001125.1:p.Ala183Val | |
| NM_001354717.2:c.74C>T | NP_001341646.2:p.Ala25Val |