Linked Data
ClinVar Variation Id:
518535
dbSNP Id:
rs1489132337
gnomAD v3:
11-2587639-C-G
gnomAD v4:
11-2587639-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2587639C>G , CM000673.2:g.2587639C>G | GRCh38 |
| NC_000011.9:g.2608869C>G , CM000673.1:g.2608869C>G | GRCh37 |
| NC_000011.8:g.2565445C>G | NCBI36 |
| NG_008935.1:g.147649C>G , LRG_287:g.147649C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.841C>G | ENSP00000434560.2:p.Pro281Ala | |
| ENST00000646564.2:c.658C>G | ENSP00000495806.2:p.Pro220Ala | |
| ENST00000155840.12:c.1198C>G MANE Select | ENSP00000155840.2:p.Pro400Ala | |
| ENST00000335475.6:c.817C>G | ENSP00000334497.5:p.Pro273Ala | |
| ENST00000646564.1:c.304C>G | ENSP00000495806.1:p.Pro102Ala | |
| ENST00000155840.9:c.1198C>G | ENSP00000155840.2:p.Pro400Ala | |
| ENST00000335475.5:c.817C>G | ENSP00000334497.5:p.Pro273Ala | |
| NM_000218.2:c.1198C>G , LRG_287t1:c.1198C>G | NP_000209.2:p.Pro400Ala | |
| NM_181798.1:c.817C>G , LRG_287t2:c.817C>G | NP_861463.1:p.Pro273Ala | |
| NM_000218.3:c.1198C>G MANE Select | NP_000209.2:p.Pro400Ala |