Linked Data
ClinVar Variation Id:
2960727
ClinVar RCV Id:
RCV003817462
dbSNP Id:
rs1016945188
gnomAD v4:
11-2587664-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2587664C>G , CM000673.2:g.2587664C>G | GRCh38 |
| NC_000011.9:g.2608894C>G , CM000673.1:g.2608894C>G | GRCh37 |
| NC_000011.8:g.2565470C>G | NCBI36 |
| NG_008935.1:g.147674C>G , LRG_287:g.147674C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.866C>G | ENSP00000434560.2:p.Pro289Arg | |
| ENST00000646564.2:c.683C>G | ENSP00000495806.2:p.Pro228Arg | |
| ENST00000155840.12:c.1223C>G MANE Select | ENSP00000155840.2:p.Pro408Arg | |
| ENST00000335475.6:c.842C>G | ENSP00000334497.5:p.Pro281Arg | |
| ENST00000646564.1:c.329C>G | ENSP00000495806.1:p.Pro110Arg | |
| ENST00000155840.9:c.1223C>G | ENSP00000155840.2:p.Pro408Arg | |
| ENST00000335475.5:c.842C>G | ENSP00000334497.5:p.Pro281Arg | |
| NM_000218.2:c.1223C>G , LRG_287t1:c.1223C>G | NP_000209.2:p.Pro408Arg | |
| NM_181798.1:c.842C>G , LRG_287t2:c.842C>G | NP_861463.1:p.Pro281Arg | |
| NM_000218.3:c.1223C>G MANE Select | NP_000209.2:p.Pro408Arg |