Linked Data
dbSNP Id:
rs762058274
ExAC:
4:175414370 T / G
gnomAD v2:
4-175414370-T-G
gnomAD v4:
4-174493219-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.174493219T>G , CM000666.2:g.174493219T>G | GRCh38 |
| NC_000004.11:g.175414370T>G , CM000666.1:g.175414370T>G | GRCh37 |
| NC_000004.10:g.175650945T>G | NCBI36 |
| NG_011689.1:g.34423A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296522.11:c.594A>C MANE Select | ENSP00000296522.6:p.Glu198Asp | |
| ENST00000296521.11:c.499-1125A>C | ENSP00000296521.7:n.499-1125A>C | |
| ENST00000296522.10:c.594A>C | ENSP00000296522.6:p.Glu198Asp | |
| ENST00000422112.6:c.390A>C | ENSP00000398720.2:p.Glu130Asp | |
| ENST00000506910.5:c.231A>C | ENSP00000423066.1:p.Glu77Asp | |
| ENST00000508330.5:c.*223A>C | ENSP00000425741.1:n.*223A>C | |
| ENST00000509512.1:n.243A>C | ||
| ENST00000510835.5:c.*356A>C | ENSP00000427699.1:n.*356A>C | |
| ENST00000510901.5:c.231A>C | ENSP00000422418.1:p.Glu77Asp | |
| ENST00000511499.5:n.378A>C | ||
| ENST00000514584.5:c.231A>C | ENSP00000423110.1:p.Glu77Asp | |
| ENST00000541923.5:c.231A>C | ENSP00000438017.1:p.Glu77Asp | |
| ENST00000542498.5:c.422-1125A>C | ENSP00000443644.1:n.422-1125A>C | |
| NM_000860.5:c.594A>C | NP_000851.2:p.Glu198Asp | |
| NM_001145816.2:c.499-1125A>C | NP_001139288.1:n.499-1125A>C | |
| NM_001256301.1:c.231A>C | NP_001243230.1:p.Glu77Asp | |
| NM_001256305.1:c.422-1125A>C | NP_001243234.1:n.422-1125A>C | |
| NM_001256306.1:c.390A>C | NP_001243235.1:p.Glu130Asp | |
| NM_001256307.1:c.231A>C | NP_001243236.1:p.Glu77Asp | |
| NM_000860.6:c.594A>C MANE Select | NP_000851.2:p.Glu198Asp | |
| NM_001145816.3:c.499-1125A>C | NP_001139288.1:n.499-1125A>C | |
| NM_001256305.2:c.422-1125A>C | NP_001243234.1:n.422-1125A>C | |
| NM_001256306.2:c.390A>C | NP_001243235.1:p.Glu130Asp | |
| NM_001256307.2:c.231A>C | NP_001243236.1:p.Glu77Asp |