Linked Data
ClinVar Variation Id:
287524
ClinVar RCV Id:
RCV000320580
RCV000765078
RCV000726026
RCV001097664
RCV001097665
RCV002278305
RCV004535386
dbSNP Id:
rs142736845
ExAC:
1:22191361 G / C
gnomAD v2:
1-22191361-G-C
gnomAD v3:
1-21864868-G-C
gnomAD v4:
1-21864868-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21864868G>C , CM000663.2:g.21864868G>C | GRCh38 |
| NC_000001.10:g.22191361G>C , CM000663.1:g.22191361G>C | GRCh37 |
| NC_000001.9:g.22063948G>C | NCBI36 |
| NG_016740.1:g.77390C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.4601C>G MANE Select | ENSP00000363827.3:p.Pro1534Arg | |
| ENST00000374695.7:c.4601C>G | ENSP00000363827.3:p.Pro1534Arg | |
| NM_001291860.1:c.4604C>G | NP_001278789.1:p.Pro1535Arg | |
| NM_005529.6:c.4601C>G | NP_005520.4:p.Pro1534Arg | |
| XM_006710594.2:c.5147C>G | XP_006710657.1:p.Pro1716Arg | |
| XM_006710595.2:c.5099C>G | XP_006710658.1:p.Pro1700Arg | |
| XM_006710596.2:c.5078C>G | XP_006710659.1:p.Pro1693Arg | |
| XM_006710597.2:c.4601C>G | XP_006710660.1:p.Pro1534Arg | |
| XM_011541317.1:c.5150C>G | XP_011539619.1:p.Pro1717Arg | |
| XM_011541318.1:c.5150C>G | XP_011539620.1:p.Pro1717Arg | |
| XM_011541319.1:c.5150C>G | XP_011539621.1:p.Pro1717Arg | |
| XM_011541320.1:c.5150C>G | XP_011539622.1:p.Pro1717Arg | |
| XM_011541321.1:c.4655C>G | XP_011539623.1:p.Pro1552Arg | |
| XM_011541322.1:c.5150C>G | XP_011539624.1:p.Pro1717Arg | |
| XM_011541318.2:c.5150C>G | XP_011539620.1:p.Pro1717Arg | |
| XM_017001120.1:c.4796C>G | XP_016856609.1:p.Pro1599Arg | |
| XM_017001121.1:c.4745C>G | XP_016856610.1:p.Pro1582Arg | |
| XM_017001122.1:c.4742C>G | XP_016856611.1:p.Pro1581Arg | |
| NM_005529.7:c.4601C>G MANE Select | NP_005520.4:p.Pro1534Arg | |
| NM_001291860.2:c.4604C>G | NP_001278789.1:p.Pro1535Arg |