Linked Data
ClinVar Variation Id:
3211625
ClinVar RCV Id:
RCV004498491
dbSNP Id:
rs574780045
ExAC:
7:44104937 G / C
gnomAD v2:
7-44104937-G-C
gnomAD v3:
7-44065338-G-C
gnomAD v4:
7-44065338-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44065338G>C , CM000669.2:g.44065338G>C | GRCh38 |
| NC_000007.13:g.44104937G>C , CM000669.1:g.44104937G>C | GRCh37 |
| NC_000007.12:g.44071462G>C | NCBI36 |
| NG_013016.1:g.5250C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297283.4:c.192C>G (PGAM2) MANE Select | ENSP00000297283.3:p.Ile64Met | |
| ENST00000448521.6:c.*4422G>C (DBNL) MANE Select | ENSP00000411701.1:n.*4422G>C | |
| ENST00000297283.3:c.192C>G (PGAM2) | ENSP00000297283.3:p.Ile64Met | |
| ENST00000432854.5:c.5500G>C (DBNL) | ||
| NM_000290.3:c.192C>G (PGAM2) | NP_000281.2:p.Ile64Met | |
| XM_011515426.1:c.192C>G (PGAM2) | XP_011513728.1:p.Ile64Met | |
| NM_000290.4:c.192C>G (PGAM2) MANE Select | NP_000281.2:p.Ile64Met | |
| NM_001014436.3:c.*4422G>C (DBNL) MANE Select | NP_001014436.1:n.*4422G>C | |
| NM_001122956.2:c.*4422G>C (DBNL) | NP_001116428.1:n.*4422G>C | |
| NM_001284313.2:c.*4422G>C (DBNL) | NP_001271242.1:n.*4422G>C | |
| NM_001362723.2:c.*4422G>C (DBNL) | NP_001349652.1:n.*4422G>C | |
| NM_014063.7:c.*4422G>C (DBNL) | NP_054782.2:n.*4422G>C | |
| NM_001284315.2:c.*4422G>C (DBNL) | NP_001271244.1:n.*4422G>C |