Linked Data
ClinVar Variation Id:
200896
ClinVar RCV Id:
RCV000505717
dbSNP Id:
rs794728570
gnomAD v4:
11-2572030-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572030A>C , CM000673.2:g.2572030A>C | GRCh38 |
| NC_000011.9:g.2593260A>C , CM000673.1:g.2593260A>C | GRCh37 |
| NC_000011.8:g.2549836A>C | NCBI36 |
| NG_008935.1:g.132040A>C , LRG_287:g.132040A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.440A>C | ENSP00000434560.2:p.Gln147Pro | |
| ENST00000646564.2:c.478-11405A>C | ENSP00000495806.2:n.478-11405A>C | |
| ENST00000155840.12:c.701A>C MANE Select | ENSP00000155840.2:p.Gln234Pro | |
| ENST00000335475.6:c.320A>C | ENSP00000334497.5:p.Gln107Pro | |
| ENST00000646564.1:c.124-11405A>C | ENSP00000495806.1:n.124-11405A>C | |
| ENST00000155840.9:c.701A>C | ENSP00000155840.2:p.Gln234Pro | |
| ENST00000335475.5:c.320A>C | ENSP00000334497.5:p.Gln107Pro | |
| ENST00000496887.6:c.440A>C | ENSP00000434560.1:p.Gln147Pro | |
| NM_000218.2:c.701A>C , LRG_287t1:c.701A>C | NP_000209.2:p.Gln234Pro | |
| NM_181798.1:c.320A>C , LRG_287t2:c.320A>C | NP_861463.1:p.Gln107Pro | |
| NM_000218.3:c.701A>C MANE Select | NP_000209.2:p.Gln234Pro |