Linked Data
dbSNP Id:
rs528386463
ExAC:
8:96037271 C / G
gnomAD v2:
8-96037271-C-G
gnomAD v3:
8-95025043-C-G
gnomAD v4:
8-95025043-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95025043C>G , CM000670.2:g.95025043C>G | GRCh38 |
| NC_000008.10:g.96037271C>G , CM000670.1:g.96037271C>G | GRCh37 |
| NC_000008.9:g.96106447C>G | NCBI36 |
| NG_016647.1:g.5051C>G | |
| NG_016647.2:g.134773C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519804.2:c.35C>G | ENSP00000430230.2:p.Pro12Arg | |
| ENST00000697355.1:c.-83-6952C>G | ENSP00000513277.1:n.-83-6952C>G | |
| ENST00000697364.1:c.-83-6952C>G | ENSP00000513278.1:n.-83-6952C>G | |
| ENST00000396124.9:c.35C>G MANE Select | ENSP00000379430.4:p.Pro12Arg | |
| ENST00000396111.6:c.-83-6952C>G | ENSP00000379417.1:n.-83-6952C>G | |
| ENST00000396113.5:c.-84+1724C>G | ENSP00000379419.1:n.-84+1724C>G | |
| ENST00000396124.8:c.35C>G | ENSP00000379430.4:p.Pro12Arg | |
| ENST00000517976.5:c.23C>G | ENSP00000430099.1:p.Pro8Arg | |
| ENST00000518258.5:c.35C>G | ENSP00000428788.1:p.Pro12Arg | |
| ENST00000519136.5:c.-255-6952C>G | ENSP00000429585.1:n.-255-6952C>G | |
| ENST00000520632.5:c.11C>G | ENSP00000428666.1:p.Pro4Arg | |
| ENST00000523337.5:c.35C>G | ENSP00000429038.1:p.Pro12Arg | |
| ENST00000523378.5:c.-83-6952C>G | ENSP00000428034.1:n.-83-6952C>G | |
| NM_152416.3:c.35C>G | NP_689629.2:p.Pro12Arg | |
| XM_005250789.1:c.-246C>G | XP_005250846.1:n.-246C>G | |
| XM_005250790.1:c.-418C>G | XP_005250847.1:n.-418C>G | |
| XM_005250792.1:c.-550C>G | XP_005250849.1:n.-550C>G | |
| XM_011516833.1:c.42-6952C>G | XP_011515135.1:n.42-6952C>G | |
| XM_011516834.1:c.42-6952C>G | XP_011515136.1:n.42-6952C>G | |
| XM_011516835.1:c.42-6952C>G | XP_011515137.1:n.42-6952C>G | |
| XM_011516836.1:c.42-6952C>G | XP_011515138.1:n.42-6952C>G | |
| XM_011516837.1:c.42-6952C>G | XP_011515139.1:n.42-6952C>G | |
| XM_011516838.1:c.42-6952C>G | XP_011515140.1:n.42-6952C>G | |
| XM_011516839.1:c.42-6952C>G | XP_011515141.1:n.42-6952C>G | |
| XM_011516840.1:c.42-6952C>G | XP_011515142.1:n.42-6952C>G | |
| XM_011516841.1:c.42-6952C>G | XP_011515143.1:n.42-6952C>G | |
| XM_011516842.1:c.42-6952C>G | XP_011515144.1:n.42-6952C>G | |
| XM_011516843.1:c.-84+1724C>G | XP_011515145.1:n.-84+1724C>G | |
| NM_001330582.1:c.-246C>G | NP_001317511.1:n.-246C>G | |
| NM_001354514.1:c.-83-6952C>G | NP_001341443.1:n.-83-6952C>G | |
| NM_001354515.1:c.-83-6952C>G | NP_001341444.1:n.-83-6952C>G | |
| NM_001354516.1:c.42-6952C>G | NP_001341445.1:n.42-6952C>G | |
| NM_001354517.1:c.-199C>G | NP_001341446.1:n.-199C>G | |
| NM_001354518.1:c.-418C>G | NP_001341447.1:n.-418C>G | |
| NM_001354519.1:c.-414C>G | NP_001341448.1:n.-414C>G | |
| NM_001354521.1:c.-246C>G | NP_001341450.1:n.-246C>G | |
| NM_001354522.1:c.-383-6952C>G | NP_001341451.1:n.-383-6952C>G | |
| NM_001354524.1:c.-456-6952C>G | NP_001341453.1:n.-456-6952C>G | |
| NM_001354525.1:c.-456-6952C>G | NP_001341454.1:n.-456-6952C>G | |
| NM_001354527.1:c.-763C>G | NP_001341456.1:n.-763C>G | |
| NM_001354528.1:c.-734C>G | NP_001341457.1:n.-734C>G | |
| NM_001354529.1:c.-546C>G | NP_001341458.1:n.-546C>G | |
| NM_001354530.1:c.-648C>G | NP_001341459.1:n.-648C>G | |
| NM_001354531.1:c.-644C>G | NP_001341460.1:n.-644C>G | |
| NM_001354532.1:c.-652C>G | NP_001341461.1:n.-652C>G | |
| NM_001354533.1:c.-615C>G | NP_001341462.1:n.-615C>G | |
| NM_001354534.1:c.-136-6952C>G | NP_001341463.1:n.-136-6952C>G | |
| NR_148910.1:n.69C>G | ||
| NR_148911.1:n.69C>G | ||
| NR_148912.1:n.69C>G | ||
| NR_148913.1:n.69C>G | ||
| NR_148914.1:n.69C>G | ||
| NR_148915.1:n.69C>G | ||
| XM_005250792.2:c.-550C>G | XP_005250849.1:n.-550C>G | |
| XM_011516833.2:c.42-6952C>G | XP_011515135.1:n.42-6952C>G | |
| XM_011516834.2:c.42-6952C>G | XP_011515136.1:n.42-6952C>G | |
| XM_011516835.2:c.42-6952C>G | XP_011515137.1:n.42-6952C>G | |
| XM_011516836.2:c.42-6952C>G | XP_011515138.1:n.42-6952C>G | |
| XM_011516837.2:c.42-6952C>G | XP_011515139.1:n.42-6952C>G | |
| XM_011516838.2:c.42-6952C>G | XP_011515140.1:n.42-6952C>G | |
| XM_011516839.2:c.42-6952C>G | XP_011515141.1:n.42-6952C>G | |
| XM_011516840.2:c.42-6952C>G | XP_011515142.1:n.42-6952C>G | |
| XM_011516841.2:c.42-6952C>G | XP_011515143.1:n.42-6952C>G | |
| XM_011516842.2:c.42-6952C>G | XP_011515144.1:n.42-6952C>G | |
| XM_017013027.2:c.42-6952C>G | XP_016868516.1:n.42-6952C>G | |
| XM_017013028.1:c.42-6952C>G | XP_016868517.1:n.42-6952C>G | |
| XM_017013029.1:c.42-6952C>G | XP_016868518.1:n.42-6952C>G | |
| XM_017013033.2:c.-84+1724C>G | XP_016868522.1:n.-84+1724C>G | |
| XM_024447062.1:c.-136-6952C>G | XP_024302830.1:n.-136-6952C>G | |
| NM_152416.4:c.35C>G MANE Select | NP_689629.2:p.Pro12Arg | |
| NR_148913.2:n.55C>G | ||
| NR_148914.2:n.55C>G | ||
| NM_001330582.2:c.-246C>G | NP_001317511.1:n.-246C>G | |
| NM_001354514.2:c.-83-6952C>G | NP_001341443.1:n.-83-6952C>G | |
| NM_001354515.2:c.-83-6952C>G | NP_001341444.1:n.-83-6952C>G | |
| NM_001354516.2:c.42-6952C>G | NP_001341445.1:n.42-6952C>G | |
| NM_001354517.2:c.-199C>G | NP_001341446.1:n.-199C>G | |
| NM_001354518.2:c.-418C>G | NP_001341447.1:n.-418C>G | |
| NM_001354519.2:c.-414C>G | NP_001341448.1:n.-414C>G | |
| NM_001354521.2:c.-246C>G | NP_001341450.1:n.-246C>G | |
| NM_001354522.2:c.-383-6952C>G | NP_001341451.1:n.-383-6952C>G | |
| NM_001354524.2:c.-456-6952C>G | NP_001341453.1:n.-456-6952C>G | |
| NM_001354525.2:c.-456-6952C>G | NP_001341454.1:n.-456-6952C>G | |
| NM_001354527.2:c.-763C>G | NP_001341456.1:n.-763C>G | |
| NM_001354528.2:c.-734C>G | NP_001341457.1:n.-734C>G | |
| NM_001354529.2:c.-546C>G | NP_001341458.1:n.-546C>G | |
| NM_001354530.2:c.-648C>G | NP_001341459.1:n.-648C>G | |
| NM_001354531.2:c.-644C>G | NP_001341460.1:n.-644C>G | |
| NM_001354532.2:c.-652C>G | NP_001341461.1:n.-652C>G | |
| NM_001354533.2:c.-615C>G | NP_001341462.1:n.-615C>G | |
| NM_001354534.2:c.-136-6952C>G | NP_001341463.1:n.-136-6952C>G | |
| NR_148910.2:n.55C>G | ||
| NR_148911.2:n.55C>G | ||
| NR_148912.2:n.55C>G | ||
| NR_148915.2:n.55C>G |