Linked Data
dbSNP Id:
rs375467367
ExAC:
14:23844930 C / A
gnomAD v2:
14-23844930-C-A
gnomAD v3:
14-23375721-C-A
gnomAD v4:
14-23375721-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23375721C>A , CM000676.2:g.23375721C>A | GRCh38 |
| NC_000014.8:g.23844930C>A , CM000676.1:g.23844930C>A | GRCh37 |
| NC_000014.7:g.22914770C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397242.3:c.327C>A MANE Select | ENSP00000380417.2:p.Asp109Glu | |
| ENST00000329715.2:c.375C>A | ENSP00000328111.2:p.Asp125Glu | |
| ENST00000397242.2:c.327C>A | ENSP00000380417.2:p.Asp109Glu | |
| NM_022789.3:c.375C>A | NP_073626.1:p.Asp125Glu | |
| NM_172314.1:c.327C>A | NP_758525.1:p.Asp109Glu |