Linked Data
ClinVar Variation Id:
2252320
ClinVar RCV Id:
RCV004111831
dbSNP Id:
rs967319547
gnomAD v4:
15-90981558-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90981558C>T , CM000677.2:g.90981558C>T | GRCh38 |
| NC_000015.9:g.91524788C>T , CM000677.1:g.91524788C>T | GRCh37 |
| NC_000015.8:g.89325792C>T | NCBI36 |
| NG_050647.1:g.18094G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394249.8:c.613G>A (PRC1) MANE Select | ENSP00000377793.3:p.Glu205Lys | |
| ENST00000643536.1:c.*576G>A | ENSP00000494429.1:n.*576G>A | |
| ENST00000647331.1:c.*576G>A | ENSP00000493953.1:n.*576G>A | |
| ENST00000361188.9:c.613G>A (PRC1) | ENSP00000354679.5:p.Glu205Lys | |
| ENST00000394249.7:c.613G>A (PRC1) | ENSP00000377793.3:p.Glu205Lys | |
| ENST00000417173.6:n.600G>A (PRC1) | ||
| ENST00000442656.6:c.490G>A (PRC1) | ENSP00000409549.2:p.Glu164Lys | |
| ENST00000553494.5:n.620+190G>A (PRC1) | ||
| ENST00000557763.5:n.778G>A (PRC1) | ||
| ENST00000560605.1:n.528G>A (PRC1) | ||
| NM_001267580.1:c.490G>A (PRC1) | NP_001254509.1:p.Glu164Lys | |
| NM_003981.3:c.613G>A (PRC1) | NP_003972.1:p.Glu205Lys | |
| NM_199413.2:c.613G>A (PRC1) | NP_955445.1:p.Glu205Lys | |
| NR_051984.1:n.311-397C>T (PRC1-AS1) | ||
| XM_005254987.1:c.613G>A (PRC1) | XP_005255044.1:p.Glu205Lys | |
| XM_006720759.1:c.613G>A (PRC1) | XP_006720822.1:p.Glu205Lys | |
| XM_006720760.1:c.613G>A (PRC1) | XP_006720823.1:p.Glu205Lys | |
| XM_011522187.1:c.613G>A (PRC1) | XP_011520489.1:p.Glu205Lys | |
| XM_011522188.1:c.613G>A (PRC1) | XP_011520490.1:p.Glu205Lys | |
| XM_011522189.1:c.613G>A (PRC1) | XP_011520491.1:p.Glu205Lys | |
| XM_011522190.1:c.501+190G>A (PRC1) | XP_011520492.1:n.501+190G>A | |
| XM_011522191.1:c.613G>A (PRC1) | XP_011520493.1:p.Glu205Lys | |
| XM_011522192.1:c.501+190G>A (PRC1) | XP_011520494.1:n.501+190G>A | |
| XM_005254987.3:c.613G>A (PRC1) | XP_005255044.1:p.Glu205Lys | |
| XM_006720759.2:c.613G>A (PRC1) | XP_006720822.1:p.Glu205Lys | |
| XM_006720760.2:c.613G>A (PRC1) | XP_006720823.1:p.Glu205Lys | |
| XM_011522187.2:c.613G>A (PRC1) | XP_011520489.1:p.Glu205Lys | |
| XM_011522188.3:c.613G>A (PRC1) | XP_011520490.1:p.Glu205Lys | |
| XM_011522189.2:c.613G>A (PRC1) | XP_011520491.1:p.Glu205Lys | |
| XM_011522190.3:c.501+190G>A (PRC1) | XP_011520492.1:n.501+190G>A | |
| XM_011522191.3:c.613G>A (PRC1) | XP_011520493.1:p.Glu205Lys | |
| XM_011522192.2:c.501+190G>A (PRC1) | XP_011520494.1:n.501+190G>A | |
| XM_017022712.2:c.613G>A (PRC1) | XP_016878201.1:p.Glu205Lys | |
| XM_017022713.2:c.613G>A (PRC1) | XP_016878202.1:p.Glu205Lys | |
| XM_017022714.2:c.457G>A (PRC1) | XP_016878203.1:p.Glu153Lys | |
| XM_017022715.2:c.457G>A (PRC1) | XP_016878204.1:p.Glu153Lys | |
| XM_017022716.2:c.501+190G>A (PRC1) | XP_016878205.1:n.501+190G>A | |
| XM_017022717.1:c.457G>A (PRC1) | XP_016878206.1:p.Glu153Lys | |
| NM_003981.4:c.613G>A (PRC1) MANE Select | NP_003972.2:p.Glu205Lys | |
| NM_001267580.2:c.490G>A (PRC1) | NP_001254509.2:p.Glu164Lys | |
| NM_199413.3:c.613G>A (PRC1) | NP_955445.2:p.Glu205Lys |