Linked Data
ClinVar Variation Id:
356908
dbSNP Id:
rs758340317
ExAC:
6:43581418 T / C
gnomAD v2:
6-43581418-T-C
gnomAD v3:
6-43613681-T-C
gnomAD v4:
6-43613681-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43613681T>C , CM000668.2:g.43613681T>C | GRCh38 |
| NC_000006.11:g.43581418T>C , CM000668.1:g.43581418T>C | GRCh37 |
| NC_000006.10:g.43689396T>C | NCBI36 |
| NG_009252.1:g.42541T>C , LRG_470:g.42541T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.1266T>C (POLH) MANE Select | ENSP00000361310.4:p.Leu422= | |
| ENST00000372226.1:c.1245-50T>C (POLH) | ENSP00000361300.1:n.1245-50T>C | |
| ENST00000372236.8:c.1266T>C (POLH) | ENSP00000361310.4:p.Leu422= | |
| ENST00000496137.5:c.449+6438A>G (GTPBP2) | ENSP00000436973.1:n.449+6438A>G | |
| NM_001291969.1:c.894T>C (POLH) | NP_001278898.1:p.Leu298= | |
| NM_001291970.1:c.1245-50T>C (POLH) | NP_001278899.1:n.1245-50T>C | |
| NM_006502.2:c.1266T>C , LRG_470t1:c.1266T>C (POLH) | NP_006493.1:p.Leu422= | |
| XM_005249186.2:c.1080T>C (POLH) | XP_005249243.1:p.Leu360= | |
| XM_011514698.1:c.894T>C (POLH) | XP_011513000.1:p.Leu298= | |
| XM_005249186.4:c.1080T>C (POLH) | XP_005249243.1:p.Leu360= | |
| XM_011514698.3:c.894T>C (POLH) | XP_011513000.1:p.Leu298= | |
| XM_024446466.1:c.1014T>C (POLH) | XP_024302234.1:p.Leu338= | |
| XM_024446467.1:c.810T>C (POLH) | XP_024302235.1:p.Leu270= | |
| NM_001291969.2:c.894T>C (POLH) | NP_001278898.1:p.Leu298= | |
| NM_001291970.2:c.1245-50T>C (POLH) | NP_001278899.1:n.1245-50T>C | |
| NM_006502.3:c.1266T>C (POLH) MANE Select | NP_006493.1:p.Leu422= | |
| NM_001318876.2:c.945+84410T>C (POLR1C) | NP_001305805.1:n.945+84410T>C |