Linked Data
ClinVar Variation Id:
3053583
ClinVar RCV Id:
RCV003964130
dbSNP Id:
rs142350623
ExAC:
7:44105084 T / A
gnomAD v2:
7-44105084-T-A
gnomAD v3:
7-44065485-T-A
gnomAD v4:
7-44065485-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44065485T>A , CM000669.2:g.44065485T>A | GRCh38 |
| NC_000007.13:g.44105084T>A , CM000669.1:g.44105084T>A | GRCh37 |
| NC_000007.12:g.44071609T>A | NCBI36 |
| NG_013016.1:g.5103A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297283.4:c.45A>T (PGAM2) MANE Select | ENSP00000297283.3:p.Thr15= | |
| ENST00000448521.6:c.*4569T>A (DBNL) MANE Select | ENSP00000411701.1:n.*4569T>A | |
| ENST00000297283.3:c.45A>T (PGAM2) | ENSP00000297283.3:p.Thr15= | |
| ENST00000432854.5:c.5647T>A (DBNL) | ||
| NM_000290.3:c.45A>T (PGAM2) | NP_000281.2:p.Thr15= | |
| XM_011515426.1:c.45A>T (PGAM2) | XP_011513728.1:p.Thr15= | |
| XR_927214.1:n.58T>A | ||
| XR_927215.1:n.57T>A | ||
| XR_927216.1:n.58T>A | ||
| XR_927217.1:n.58T>A | ||
| XR_927218.1:n.58T>A | ||
| NM_000290.4:c.45A>T (PGAM2) MANE Select | NP_000281.2:p.Thr15= | |
| NM_001014436.3:c.*4569T>A (DBNL) MANE Select | NP_001014436.1:n.*4569T>A | |
| NM_001122956.2:c.*4569T>A (DBNL) | NP_001116428.1:n.*4569T>A | |
| NM_001284313.2:c.*4569T>A (DBNL) | NP_001271242.1:n.*4569T>A | |
| NM_001362723.2:c.*4569T>A (DBNL) | NP_001349652.1:n.*4569T>A | |
| NM_014063.7:c.*4569T>A (DBNL) | NP_054782.2:n.*4569T>A | |
| NM_001284315.2:c.*4569T>A (DBNL) | NP_001271244.1:n.*4569T>A |