Linked Data
ClinVar Variation Id:
372259
ClinVar RCV Id:
RCV000412485
dbSNP Id:
rs1057519086
gnomAD v4:
8-95052177-A-G
PubMed:
PMID:26741492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95052177A>G , CM000670.2:g.95052177A>G | GRCh38 |
| NC_000008.10:g.96064405A>G , CM000670.1:g.96064405A>G | GRCh37 |
| NC_000008.9:g.96133581A>G | NCBI36 |
| NG_016647.1:g.32185A>G | |
| NG_016647.2:g.161907A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519804.2:c.*614A>G | ENSP00000430230.2:n.*614A>G | |
| ENST00000697355.1:c.*590A>G | ENSP00000513277.1:n.*590A>G | |
| ENST00000697364.1:c.544A>G | ENSP00000513278.1:p.Arg182Gly | |
| ENST00000396124.9:c.820A>G MANE Select | ENSP00000379430.4:p.Arg274Gly | |
| ENST00000396111.6:c.544A>G | ENSP00000379417.1:p.Arg182Gly | |
| ENST00000396113.5:c.544A>G | ENSP00000379419.1:p.Arg182Gly | |
| ENST00000396124.8:c.820A>G | ENSP00000379430.4:p.Arg274Gly | |
| ENST00000454358.6:c.765A>G | ||
| ENST00000517976.5:c.1005A>G | ENSP00000430099.1:n.1005A>G | |
| ENST00000518258.5:c.*795A>G | ENSP00000428788.1:n.*795A>G | |
| ENST00000520757.1:c.885A>G | ||
| ENST00000523184.5:n.93+3619A>G | ||
| NM_152416.3:c.820A>G | NP_689629.2:p.Arg274Gly | |
| XM_005250789.1:c.544A>G | XP_005250846.1:p.Arg182Gly | |
| XM_005250790.1:c.487A>G | XP_005250847.1:p.Arg163Gly | |
| XM_005250791.1:c.364A>G | XP_005250848.1:p.Arg122Gly | |
| XM_005250792.1:c.364A>G | XP_005250849.1:p.Arg122Gly | |
| XM_005250793.1:c.364A>G | XP_005250850.1:p.Arg122Gly | |
| XM_011516833.1:c.664A>G | XP_011515135.1:p.Arg222Gly | |
| XM_011516834.1:c.664A>G | XP_011515136.1:p.Arg222Gly | |
| XM_011516835.1:c.664A>G | XP_011515137.1:p.Arg222Gly | |
| XM_011516836.1:c.664A>G | XP_011515138.1:p.Arg222Gly | |
| XM_011516837.1:c.664A>G | XP_011515139.1:p.Arg222Gly | |
| XM_011516838.1:c.664A>G | XP_011515140.1:p.Arg222Gly | |
| XM_011516839.1:c.664A>G | XP_011515141.1:p.Arg222Gly | |
| XM_011516840.1:c.664A>G | XP_011515142.1:p.Arg222Gly | |
| XM_011516841.1:c.664A>G | XP_011515143.1:p.Arg222Gly | |
| XM_011516842.1:c.664A>G | XP_011515144.1:p.Arg222Gly | |
| XM_011516843.1:c.544A>G | XP_011515145.1:p.Arg182Gly | |
| XM_011516844.1:c.487A>G | XP_011515146.1:p.Arg163Gly | |
| NM_001330582.1:c.544A>G | NP_001317511.1:p.Arg182Gly | |
| NM_001354514.1:c.544A>G | NP_001341443.1:p.Arg182Gly | |
| NM_001354515.1:c.544A>G | NP_001341444.1:p.Arg182Gly | |
| NM_001354516.1:c.664A>G | NP_001341445.1:p.Arg222Gly | |
| NM_001354517.1:c.487A>G | NP_001341446.1:p.Arg163Gly | |
| NM_001354518.1:c.487A>G | NP_001341447.1:p.Arg163Gly | |
| NM_001354519.1:c.487A>G | NP_001341448.1:p.Arg163Gly | |
| NM_001354521.1:c.540+3619A>G | NP_001341450.1:n.540+3619A>G | |
| NM_001354522.1:c.364A>G | NP_001341451.1:p.Arg122Gly | |
| NM_001354524.1:c.364A>G | NP_001341453.1:p.Arg122Gly | |
| NM_001354525.1:c.364A>G | NP_001341454.1:p.Arg122Gly | |
| NM_001354527.1:c.364A>G | NP_001341456.1:p.Arg122Gly | |
| NM_001354528.1:c.364A>G | NP_001341457.1:p.Arg122Gly | |
| NM_001354529.1:c.364A>G | NP_001341458.1:p.Arg122Gly | |
| NM_001354530.1:c.364A>G | NP_001341459.1:p.Arg122Gly | |
| NM_001354531.1:c.364A>G | NP_001341460.1:p.Arg122Gly | |
| NM_001354532.1:c.364A>G | NP_001341461.1:p.Arg122Gly | |
| NM_001354533.1:c.364A>G | NP_001341462.1:p.Arg122Gly | |
| NM_001354534.1:c.483+3619A>G | NP_001341463.1:n.483+3619A>G | |
| NR_148910.1:n.839A>G | ||
| NR_148911.1:n.973A>G | ||
| NR_148912.1:n.977A>G | ||
| NR_148913.1:n.850+3619A>G | ||
| NR_148914.1:n.1047+3619A>G | ||
| NR_148915.1:n.978A>G | ||
| XM_005250792.2:c.364A>G | XP_005250849.1:p.Arg122Gly | |
| XM_005250793.3:c.364A>G | XP_005250850.1:p.Arg122Gly | |
| XM_011516833.2:c.664A>G | XP_011515135.1:p.Arg222Gly | |
| XM_011516834.2:c.664A>G | XP_011515136.1:p.Arg222Gly | |
| XM_011516835.2:c.664A>G | XP_011515137.1:p.Arg222Gly | |
| XM_011516836.2:c.664A>G | XP_011515138.1:p.Arg222Gly | |
| XM_011516837.2:c.664A>G | XP_011515139.1:p.Arg222Gly | |
| XM_011516838.2:c.664A>G | XP_011515140.1:p.Arg222Gly | |
| XM_011516839.2:c.664A>G | XP_011515141.1:p.Arg222Gly | |
| XM_011516840.2:c.664A>G | XP_011515142.1:p.Arg222Gly | |
| XM_011516841.2:c.664A>G | XP_011515143.1:p.Arg222Gly | |
| XM_011516842.2:c.664A>G | XP_011515144.1:p.Arg222Gly | |
| XM_017013027.2:c.664A>G | XP_016868516.1:p.Arg222Gly | |
| XM_017013028.1:c.664A>G | XP_016868517.1:p.Arg222Gly | |
| XM_017013029.1:c.664A>G | XP_016868518.1:p.Arg222Gly | |
| XM_017013033.2:c.544A>G | XP_016868522.1:p.Arg182Gly | |
| XM_017013034.1:c.487A>G | XP_016868523.1:p.Arg163Gly | |
| XM_024447062.1:c.487A>G | XP_024302830.1:p.Arg163Gly | |
| NM_152416.4:c.820A>G MANE Select | NP_689629.2:p.Arg274Gly | |
| NR_148913.2:n.836+3619A>G | ||
| NR_148914.2:n.1033+3619A>G | ||
| NM_001330582.2:c.544A>G | NP_001317511.1:p.Arg182Gly | |
| NM_001354514.2:c.544A>G | NP_001341443.1:p.Arg182Gly | |
| NM_001354515.2:c.544A>G | NP_001341444.1:p.Arg182Gly | |
| NM_001354516.2:c.664A>G | NP_001341445.1:p.Arg222Gly | |
| NM_001354517.2:c.487A>G | NP_001341446.1:p.Arg163Gly | |
| NM_001354518.2:c.487A>G | NP_001341447.1:p.Arg163Gly | |
| NM_001354519.2:c.487A>G | NP_001341448.1:p.Arg163Gly | |
| NM_001354521.2:c.540+3619A>G | NP_001341450.1:n.540+3619A>G | |
| NM_001354522.2:c.364A>G | NP_001341451.1:p.Arg122Gly | |
| NM_001354524.2:c.364A>G | NP_001341453.1:p.Arg122Gly | |
| NM_001354525.2:c.364A>G | NP_001341454.1:p.Arg122Gly | |
| NM_001354527.2:c.364A>G | NP_001341456.1:p.Arg122Gly | |
| NM_001354528.2:c.364A>G | NP_001341457.1:p.Arg122Gly | |
| NM_001354529.2:c.364A>G | NP_001341458.1:p.Arg122Gly | |
| NM_001354530.2:c.364A>G | NP_001341459.1:p.Arg122Gly | |
| NM_001354531.2:c.364A>G | NP_001341460.1:p.Arg122Gly | |
| NM_001354532.2:c.364A>G | NP_001341461.1:p.Arg122Gly | |
| NM_001354533.2:c.364A>G | NP_001341462.1:p.Arg122Gly | |
| NM_001354534.2:c.483+3619A>G | NP_001341463.1:n.483+3619A>G | |
| NR_148910.2:n.825A>G | ||
| NR_148911.2:n.959A>G | ||
| NR_148912.2:n.963A>G | ||
| NR_148915.2:n.964A>G |