Linked Data
ClinVar Variation Id:
13665
dbSNP Id:
rs121918003
ExAC:
1:21887620 G / C
gnomAD v2:
1-21887620-G-C
gnomAD v4:
1-21561127-G-C
PubMed:
PMID:1409720
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21561127G>C , CM000663.2:g.21561127G>C | GRCh38 |
| NC_000001.10:g.21887620G>C , CM000663.1:g.21887620G>C | GRCh37 |
| NC_000001.9:g.21760207G>C | NCBI36 |
| NG_008940.1:g.56763G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.212G>C MANE Select | ENSP00000363973.3:p.Arg71Pro | |
| ENST00000374832.5:c.212G>C | ENSP00000363965.1:p.Arg71Pro | |
| ENST00000374840.7:c.212G>C | ENSP00000363973.3:p.Arg71Pro | |
| ENST00000468526.1:n.272G>C | ||
| ENST00000539907.5:c.66+382G>C | ENSP00000437674.1:n.66+382G>C | |
| ENST00000540617.5:c.47G>C | ENSP00000442672.1:p.Arg16Pro | |
| NM_000478.4:c.212G>C | NP_000469.3:p.Arg71Pro | |
| NM_001127501.2:c.47G>C | NP_001120973.2:p.Arg16Pro | |
| NM_001177520.1:c.66+382G>C | NP_001170991.1:n.66+382G>C | |
| XM_005245818.1:c.212G>C | XP_005245875.1:p.Arg71Pro | |
| XM_005245820.2:c.212G>C | XP_005245877.1:p.Arg71Pro | |
| XM_006710546.1:c.212G>C | XP_006710609.1:p.Arg71Pro | |
| NM_000478.5:c.212G>C | NP_000469.3:p.Arg71Pro | |
| NM_001127501.3:c.47G>C | NP_001120973.2:p.Arg16Pro | |
| NM_001177520.2:c.66+382G>C | NP_001170991.1:n.66+382G>C | |
| XM_006710546.3:c.212G>C | XP_006710609.1:p.Arg71Pro | |
| XM_017000903.1:c.67-11G>C | XP_016856392.1:n.67-11G>C | |
| NM_000478.6:c.212G>C MANE Select | NP_000469.3:p.Arg71Pro | |
| NM_001127501.4:c.47G>C | NP_001120973.2:p.Arg16Pro | |
| NM_001177520.3:c.66+382G>C | NP_001170991.1:n.66+382G>C | |
| NM_001369803.2:c.212G>C | NP_001356732.1:p.Arg71Pro | |
| NM_001369804.2:c.212G>C | NP_001356733.1:p.Arg71Pro | |
| NM_001369805.2:c.212G>C | NP_001356734.1:p.Arg71Pro |