Linked Data
ClinVar Variation Id:
56133
ClinVar RCV Id:
RCV000049542
dbSNP Id:
rs386833615
ExAC:
10:126092440 T / C
gnomAD v2:
10-126092440-T-C
gnomAD v3:
10-124403871-T-C
gnomAD v4:
10-124403871-T-C
PubMed:
PMID:1427882
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124403871T>C , CM000672.2:g.124403871T>C | GRCh38 |
| NC_000010.10:g.126092440T>C , CM000672.1:g.126092440T>C | GRCh37 |
| NC_000010.9:g.126082430T>C | NCBI36 |
| NG_008861.1:g.20080A>G , LRG_685:g.20080A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.698A>G MANE Select | ENSP00000357838.5:p.Gln233Arg | |
| ENST00000368845.5:c.698A>G | ENSP00000357838.5:p.Gln233Arg | |
| ENST00000467675.5:n.499A>G | ||
| ENST00000483711.1:n.544A>G | ||
| ENST00000539214.5:c.284A>G | ENSP00000439042.1:p.Gln95Arg | |
| NM_000274.3:c.698A>G , LRG_685t1:c.698A>G | NP_000265.1:p.Gln233Arg | |
| NM_001171814.1:c.284A>G | NP_001165285.1:p.Gln95Arg | |
| XM_006717871.2:c.698A>G | XP_006717934.1:p.Gln233Arg | |
| XM_011539833.1:c.698A>G | XP_011538135.1:p.Gln233Arg | |
| XM_011539834.1:c.698A>G | XP_011538136.1:p.Gln233Arg | |
| NM_001322965.1:c.698A>G | NP_001309894.1:p.Gln233Arg | |
| NM_001322966.1:c.698A>G | NP_001309895.1:p.Gln233Arg | |
| NM_001322967.1:c.698A>G | NP_001309896.1:p.Gln233Arg | |
| NM_001322968.1:c.698A>G | NP_001309897.1:p.Gln233Arg | |
| NM_001322969.1:c.698A>G | NP_001309898.1:p.Gln233Arg | |
| NM_001322970.1:c.698A>G | NP_001309899.1:p.Gln233Arg | |
| NM_001322971.1:c.377A>G | NP_001309900.1:p.Gln126Arg | |
| NM_001322974.1:c.98A>G | NP_001309903.1:p.Gln33Arg | |
| XM_017016279.1:c.98A>G | XP_016871768.1:p.Gln33Arg | |
| NM_000274.4:c.698A>G MANE Select | NP_000265.1:p.Gln233Arg | |
| NM_001322965.2:c.698A>G | NP_001309894.1:p.Gln233Arg | |
| NM_001322966.2:c.698A>G | NP_001309895.1:p.Gln233Arg | |
| NM_001322967.2:c.698A>G | NP_001309896.1:p.Gln233Arg | |
| NM_001322968.2:c.698A>G | NP_001309897.1:p.Gln233Arg | |
| NM_001322969.2:c.698A>G | NP_001309898.1:p.Gln233Arg | |
| NM_001322970.2:c.698A>G | NP_001309899.1:p.Gln233Arg | |
| NM_001322971.2:c.377A>G | NP_001309900.1:p.Gln126Arg | |
| NM_001322974.2:c.98A>G | NP_001309903.1:p.Gln33Arg | |
| NM_001171814.2:c.284A>G | NP_001165285.1:p.Gln95Arg |