Linked Data
ClinVar Variation Id:
2197278
ClinVar RCV Id:
RCV002651300
dbSNP Id:
rs368632935
ExAC:
1:201044673 G / C
gnomAD v2:
1-201044673-G-C
gnomAD v4:
1-201075545-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201075545G>C , CM000663.2:g.201075545G>C | GRCh38 |
| NC_000001.10:g.201044673G>C , CM000663.1:g.201044673G>C | GRCh37 |
| NC_000001.9:g.199311296G>C | NCBI36 |
| NG_009816.1:g.42022C>G | |
| NG_009816.2:g.42022C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.1898C>G MANE Select | ENSP00000355192.3:p.Pro633Arg | |
| ENST00000679417.1:c.*1061C>G | ENSP00000506706.1:n.*1061C>G | |
| ENST00000680059.1:c.1898C>G | ENSP00000504944.1:p.Pro633Arg | |
| ENST00000681078.1:c.1898C>G | ENSP00000506645.1:p.Pro633Arg | |
| ENST00000681190.1:c.1898C>G | ENSP00000506428.1:p.Pro633Arg | |
| ENST00000681874.1:c.1898C>G | ENSP00000505162.1:p.Pro633Arg | |
| ENST00000362061.3:c.1898C>G | ENSP00000355192.3:p.Pro633Arg | |
| ENST00000367338.7:c.1898C>G | ENSP00000356307.3:p.Pro633Arg | |
| NM_000069.2:c.1898C>G | NP_000060.2:p.Pro633Arg | |
| XM_005245478.2:c.1898C>G | XP_005245535.1:p.Pro633Arg | |
| XM_005245478.3:c.1898C>G | XP_005245535.1:p.Pro633Arg | |
| NM_000069.3:c.1898C>G MANE Select | NP_000060.2:p.Pro633Arg |