Linked Data
ClinVar Variation Id:
418
dbSNP Id:
rs10250779
ExAC:
7:44104896 C / T
gnomAD v2:
7-44104896-C-T
gnomAD v3:
7-44065297-C-T
gnomAD v4:
7-44065297-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44065297C>T , CM000669.2:g.44065297C>T | GRCh38 |
| NC_000007.13:g.44104896C>T , CM000669.1:g.44104896C>T | GRCh37 |
| NC_000007.12:g.44071421C>T | NCBI36 |
| NG_013016.1:g.5291G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297283.4:c.233G>A (PGAM2) MANE Select | ENSP00000297283.3:p.Trp78Ter | |
| ENST00000448521.6:c.*4381C>T (DBNL) MANE Select | ENSP00000411701.1:n.*4381C>T | |
| ENST00000297283.3:c.233G>A (PGAM2) | ENSP00000297283.3:p.Trp78Ter | |
| ENST00000432854.5:c.5459C>T (DBNL) | ||
| NM_000290.3:c.233G>A (PGAM2) | NP_000281.2:p.Trp78Ter | |
| XM_011515426.1:c.233G>A (PGAM2) | XP_011513728.1:p.Trp78Ter | |
| NM_000290.4:c.233G>A (PGAM2) MANE Select | NP_000281.2:p.Trp78Ter | |
| NM_001014436.3:c.*4381C>T (DBNL) MANE Select | NP_001014436.1:n.*4381C>T | |
| NM_001122956.2:c.*4381C>T (DBNL) | NP_001116428.1:n.*4381C>T | |
| NM_001284313.2:c.*4381C>T (DBNL) | NP_001271242.1:n.*4381C>T | |
| NM_001362723.2:c.*4381C>T (DBNL) | NP_001349652.1:n.*4381C>T | |
| NM_014063.7:c.*4381C>T (DBNL) | NP_054782.2:n.*4381C>T | |
| NM_001284315.2:c.*4381C>T (DBNL) | NP_001271244.1:n.*4381C>T |