Linked Data
dbSNP Id:
rs751997121
ExAC:
4:175414398 G / A
gnomAD v2:
4-175414398-G-A
gnomAD v4:
4-174493247-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.174493247G>A , CM000666.2:g.174493247G>A | GRCh38 |
| NC_000004.11:g.175414398G>A , CM000666.1:g.175414398G>A | GRCh37 |
| NC_000004.10:g.175650973G>A | NCBI36 |
| NG_011689.1:g.34395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296522.11:c.566C>T MANE Select | ENSP00000296522.6:p.Ala189Val | |
| ENST00000296521.11:c.499-1153C>T | ENSP00000296521.7:n.499-1153C>T | |
| ENST00000296522.10:c.566C>T | ENSP00000296522.6:p.Ala189Val | |
| ENST00000422112.6:c.362C>T | ENSP00000398720.2:p.Ala121Val | |
| ENST00000506910.5:c.203C>T | ENSP00000423066.1:p.Ala68Val | |
| ENST00000508330.5:c.*195C>T | ENSP00000425741.1:n.*195C>T | |
| ENST00000509512.1:n.215C>T | ||
| ENST00000510835.5:c.*328C>T | ENSP00000427699.1:n.*328C>T | |
| ENST00000510901.5:c.203C>T | ENSP00000422418.1:p.Ala68Val | |
| ENST00000511499.5:n.350C>T | ||
| ENST00000514584.5:c.203C>T | ENSP00000423110.1:p.Ala68Val | |
| ENST00000541923.5:c.203C>T | ENSP00000438017.1:p.Ala68Val | |
| ENST00000542498.5:c.422-1153C>T | ENSP00000443644.1:n.422-1153C>T | |
| NM_000860.5:c.566C>T | NP_000851.2:p.Ala189Val | |
| NM_001145816.2:c.499-1153C>T | NP_001139288.1:n.499-1153C>T | |
| NM_001256301.1:c.203C>T | NP_001243230.1:p.Ala68Val | |
| NM_001256305.1:c.422-1153C>T | NP_001243234.1:n.422-1153C>T | |
| NM_001256306.1:c.362C>T | NP_001243235.1:p.Ala121Val | |
| NM_001256307.1:c.203C>T | NP_001243236.1:p.Ala68Val | |
| NM_000860.6:c.566C>T MANE Select | NP_000851.2:p.Ala189Val | |
| NM_001145816.3:c.499-1153C>T | NP_001139288.1:n.499-1153C>T | |
| NM_001256305.2:c.422-1153C>T | NP_001243234.1:n.422-1153C>T | |
| NM_001256306.2:c.362C>T | NP_001243235.1:p.Ala121Val | |
| NM_001256307.2:c.203C>T | NP_001243236.1:p.Ala68Val |