Linked Data
ClinVar Variation Id:
1558279
ClinVar RCV Id:
RCV002197681
dbSNP Id:
rs916364510
gnomAD v2:
15-89876572-G-A
gnomAD v3:
15-89333341-G-A
gnomAD v4:
15-89333341-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89333341G>A , CM000677.2:g.89333341G>A | GRCh38 |
| NC_000015.9:g.89876572G>A , CM000677.1:g.89876572G>A | GRCh37 |
| NC_000015.8:g.87677576G>A | NCBI36 |
| NG_008218.1:g.6455C>T | |
| NG_008218.2:g.6455C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.414C>T (POLG) | ENSP00000516154.1:p.His138= | |
| ENST00000706918.1:c.469C>T (POLGARF) | ENSP00000516626.1:p.Leu157Phe | |
| ENST00000268124.11:c.414C>T (POLG) MANE Select | ENSP00000268124.5:p.His138= | |
| ENST00000530292.3:c.15C>T (POLG) | ENSP00000432885.2:p.His5= | |
| ENST00000635986.2:c.414C>T (POLG) | ENSP00000490653.2:p.His138= | |
| ENST00000636774.1:c.414C>T (POLG) | ENSP00000489799.1:p.His138= | |
| ENST00000650303.2:c.469C>T (POLG) | ENSP00000497242.2:p.Leu157Phe | |
| ENST00000666746.1:c.71C>T (POLG) | ||
| ENST00000672071.1:n.612C>T (POLG) | ||
| ENST00000268124.9:c.414C>T (POLG) | ENSP00000268124.5:p.His138= | |
| ENST00000442287.6:c.414C>T (POLG) | ENSP00000399851.2:p.His138= | |
| ENST00000631044.2:c.414C>T (POLG) | ENSP00000486730.1:p.His138= | |
| NM_001126131.1:c.414C>T (POLG) | NP_001119603.1:p.His138= | |
| NM_002693.2:c.414C>T (POLG) | NP_002684.1:p.His138= | |
| NM_001126131.2:c.414C>T (POLG) | NP_001119603.1:p.His138= | |
| NM_002693.3:c.414C>T (POLG) MANE Select | NP_002684.1:p.His138= |