Linked Data
ClinVar Variation Id:
157641
ClinVar RCV Id:
RCV000162266
dbSNP Id:
rs17636091
ExAC:
15:91517479 G / A
gnomAD v2:
15-91517479-G-A
gnomAD v3:
15-90974249-G-A
gnomAD v4:
15-90974249-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90974249G>A , CM000677.2:g.90974249G>A | GRCh38 |
| NC_000015.9:g.91517479G>A , CM000677.1:g.91517479G>A | GRCh37 |
| NC_000015.8:g.89318483G>A | NCBI36 |
| NG_050647.1:g.25403C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394249.8:c.1351-3C>T (PRC1) MANE Select | ENSP00000377793.3:n.1351-3C>T | |
| ENST00000643536.1:c.*1314-3C>T | ENSP00000494429.1:n.*1314-3C>T | |
| ENST00000361188.9:c.1351-3C>T (PRC1) | ENSP00000354679.5:n.1351-3C>T | |
| ENST00000394249.7:c.1351-3C>T (PRC1) | ENSP00000377793.3:n.1351-3C>T | |
| ENST00000442656.6:c.1228-3C>T (PRC1) | ENSP00000409549.2:n.1228-3C>T | |
| ENST00000555455.5:c.201-3C>T (PRC1) | ||
| ENST00000559326.1:n.241-3C>T (PRC1) | ||
| ENST00000559828.1:c.426-3C>T (PRC1) | ||
| NM_001267580.1:c.1228-3C>T (PRC1) | NP_001254509.1:n.1228-3C>T | |
| NM_003981.3:c.1351-3C>T (PRC1) | NP_003972.1:n.1351-3C>T | |
| NM_199413.2:c.1351-3C>T (PRC1) | NP_955445.1:n.1351-3C>T | |
| NR_051984.1:n.310+7571G>A (PRC1-AS1) | ||
| XM_005254987.1:c.1351-3C>T (PRC1) | XP_005255044.1:n.1351-3C>T | |
| XM_006720759.1:c.1351-3C>T (PRC1) | XP_006720822.1:n.1351-3C>T | |
| XM_006720760.1:c.1351-3C>T (PRC1) | XP_006720823.1:n.1351-3C>T | |
| XM_011522187.1:c.1351-3C>T (PRC1) | XP_011520489.1:n.1351-3C>T | |
| XM_011522188.1:c.1351-3C>T (PRC1) | XP_011520490.1:n.1351-3C>T | |
| XM_011522189.1:c.1351-3C>T (PRC1) | XP_011520491.1:n.1351-3C>T | |
| XM_011522190.1:c.1180-3C>T (PRC1) | XP_011520492.1:n.1180-3C>T | |
| XM_011522191.1:c.1351-3C>T (PRC1) | XP_011520493.1:n.1351-3C>T | |
| XM_011522192.1:c.1030-3C>T (PRC1) | XP_011520494.1:n.1030-3C>T | |
| XM_005254987.3:c.1351-3C>T (PRC1) | XP_005255044.1:n.1351-3C>T | |
| XM_006720759.2:c.1351-3C>T (PRC1) | XP_006720822.1:n.1351-3C>T | |
| XM_006720760.2:c.1351-3C>T (PRC1) | XP_006720823.1:n.1351-3C>T | |
| XM_011522187.2:c.1351-3C>T (PRC1) | XP_011520489.1:n.1351-3C>T | |
| XM_011522188.3:c.1351-3C>T (PRC1) | XP_011520490.1:n.1351-3C>T | |
| XM_011522189.2:c.1351-3C>T (PRC1) | XP_011520491.1:n.1351-3C>T | |
| XM_011522190.3:c.1180-3C>T (PRC1) | XP_011520492.1:n.1180-3C>T | |
| XM_011522191.3:c.1351-3C>T (PRC1) | XP_011520493.1:n.1351-3C>T | |
| XM_011522192.2:c.1030-3C>T (PRC1) | XP_011520494.1:n.1030-3C>T | |
| XM_017022712.2:c.1351-3C>T (PRC1) | XP_016878201.1:n.1351-3C>T | |
| XM_017022713.2:c.1351-3C>T (PRC1) | XP_016878202.1:n.1351-3C>T | |
| XM_017022714.2:c.1195-3C>T (PRC1) | XP_016878203.1:n.1195-3C>T | |
| XM_017022715.2:c.1195-3C>T (PRC1) | XP_016878204.1:n.1195-3C>T | |
| XM_017022716.2:c.1180-3C>T (PRC1) | XP_016878205.1:n.1180-3C>T | |
| XM_017022717.1:c.1195-3C>T (PRC1) | XP_016878206.1:n.1195-3C>T | |
| NM_003981.4:c.1351-3C>T (PRC1) MANE Select | NP_003972.2:n.1351-3C>T | |
| NM_001267580.2:c.1228-3C>T (PRC1) | NP_001254509.2:n.1228-3C>T | |
| NM_199413.3:c.1351-3C>T (PRC1) | NP_955445.2:n.1351-3C>T |