Linked Data
dbSNP Id:
rs552150819
gnomAD v2:
8-96044066-T-C
gnomAD v3:
8-95031838-T-C
gnomAD v4:
8-95031838-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95031838T>C , CM000670.2:g.95031838T>C | GRCh38 |
| NC_000008.10:g.96044066T>C , CM000670.1:g.96044066T>C | GRCh37 |
| NC_000008.9:g.96113242T>C | NCBI36 |
| NG_016647.1:g.11846T>C | |
| NG_016647.2:g.141568T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519804.2:c.198-157T>C | ENSP00000430230.2:n.198-157T>C | |
| ENST00000697355.1:c.-83-157T>C | ENSP00000513277.1:n.-83-157T>C | |
| ENST00000697364.1:c.-83-157T>C | ENSP00000513278.1:n.-83-157T>C | |
| ENST00000396124.9:c.198-157T>C MANE Select | ENSP00000379430.4:n.198-157T>C | |
| ENST00000396111.6:c.-83-157T>C | ENSP00000379417.1:n.-83-157T>C | |
| ENST00000396113.5:c.-83-157T>C | ENSP00000379419.1:n.-83-157T>C | |
| ENST00000396124.8:c.198-157T>C | ENSP00000379430.4:n.198-157T>C | |
| ENST00000454358.6:c.139-157T>C | ||
| ENST00000517976.5:c.186-157T>C | ENSP00000430099.1:n.186-157T>C | |
| ENST00000518258.5:c.198-157T>C | ENSP00000428788.1:n.198-157T>C | |
| ENST00000518608.5:c.139-3616T>C | ||
| ENST00000519136.5:c.-255-157T>C | ENSP00000429585.1:n.-255-157T>C | |
| ENST00000520632.5:c.174-157T>C | ENSP00000428666.1:n.174-157T>C | |
| ENST00000520757.1:c.139-157T>C | ||
| ENST00000522683.5:c.141-157T>C | ENSP00000430991.1:n.141-157T>C | |
| ENST00000523337.5:c.198-157T>C | ENSP00000429038.1:n.198-157T>C | |
| ENST00000523378.5:c.-83-157T>C | ENSP00000428034.1:n.-83-157T>C | |
| NM_152416.3:c.198-157T>C | NP_689629.2:n.198-157T>C | |
| XM_005250789.1:c.-83-157T>C | XP_005250846.1:n.-83-157T>C | |
| XM_005250790.1:c.-255-157T>C | XP_005250847.1:n.-255-157T>C | |
| XM_005250791.1:c.-383-157T>C | XP_005250848.1:n.-383-157T>C | |
| XM_005250792.1:c.-387-157T>C | XP_005250849.1:n.-387-157T>C | |
| XM_005250793.1:c.-456-157T>C | XP_005250850.1:n.-456-157T>C | |
| XM_011516833.1:c.42-157T>C | XP_011515135.1:n.42-157T>C | |
| XM_011516834.1:c.42-157T>C | XP_011515136.1:n.42-157T>C | |
| XM_011516835.1:c.42-157T>C | XP_011515137.1:n.42-157T>C | |
| XM_011516836.1:c.42-157T>C | XP_011515138.1:n.42-157T>C | |
| XM_011516837.1:c.42-157T>C | XP_011515139.1:n.42-157T>C | |
| XM_011516838.1:c.42-157T>C | XP_011515140.1:n.42-157T>C | |
| XM_011516839.1:c.42-157T>C | XP_011515141.1:n.42-157T>C | |
| XM_011516840.1:c.42-157T>C | XP_011515142.1:n.42-157T>C | |
| XM_011516841.1:c.42-157T>C | XP_011515143.1:n.42-157T>C | |
| XM_011516842.1:c.42-157T>C | XP_011515144.1:n.42-157T>C | |
| XM_011516843.1:c.-83-157T>C | XP_011515145.1:n.-83-157T>C | |
| NM_001330582.1:c.-83-157T>C | NP_001317511.1:n.-83-157T>C | |
| NM_001354514.1:c.-83-157T>C | NP_001341443.1:n.-83-157T>C | |
| NM_001354515.1:c.-83-157T>C | NP_001341444.1:n.-83-157T>C | |
| NM_001354516.1:c.42-157T>C | NP_001341445.1:n.42-157T>C | |
| NM_001354517.1:c.-36-3616T>C | NP_001341446.1:n.-36-3616T>C | |
| NM_001354518.1:c.-255-157T>C | NP_001341447.1:n.-255-157T>C | |
| NM_001354519.1:c.-251-157T>C | NP_001341448.1:n.-251-157T>C | |
| NM_001354521.1:c.-83-157T>C | NP_001341450.1:n.-83-157T>C | |
| NM_001354522.1:c.-383-157T>C | NP_001341451.1:n.-383-157T>C | |
| NM_001354524.1:c.-456-157T>C | NP_001341453.1:n.-456-157T>C | |
| NM_001354525.1:c.-456-157T>C | NP_001341454.1:n.-456-157T>C | |
| NM_001354527.1:c.-600-157T>C | NP_001341456.1:n.-600-157T>C | |
| NM_001354528.1:c.-571-157T>C | NP_001341457.1:n.-571-157T>C | |
| NM_001354529.1:c.-383-157T>C | NP_001341458.1:n.-383-157T>C | |
| NM_001354530.1:c.-485-157T>C | NP_001341459.1:n.-485-157T>C | |
| NM_001354531.1:c.-481-157T>C | NP_001341460.1:n.-481-157T>C | |
| NM_001354532.1:c.-489-157T>C | NP_001341461.1:n.-489-157T>C | |
| NM_001354533.1:c.-452-157T>C | NP_001341462.1:n.-452-157T>C | |
| NM_001354534.1:c.-136-157T>C | NP_001341463.1:n.-136-157T>C | |
| NR_148910.1:n.232-157T>C | ||
| NR_148911.1:n.232-157T>C | ||
| NR_148912.1:n.232-157T>C | ||
| NR_148913.1:n.232-157T>C | ||
| NR_148914.1:n.232-157T>C | ||
| NR_148915.1:n.232-157T>C | ||
| XM_005250792.2:c.-387-157T>C | XP_005250849.1:n.-387-157T>C | |
| XM_005250793.3:c.-456-157T>C | XP_005250850.1:n.-456-157T>C | |
| XM_011516833.2:c.42-157T>C | XP_011515135.1:n.42-157T>C | |
| XM_011516834.2:c.42-157T>C | XP_011515136.1:n.42-157T>C | |
| XM_011516835.2:c.42-157T>C | XP_011515137.1:n.42-157T>C | |
| XM_011516836.2:c.42-157T>C | XP_011515138.1:n.42-157T>C | |
| XM_011516837.2:c.42-157T>C | XP_011515139.1:n.42-157T>C | |
| XM_011516838.2:c.42-157T>C | XP_011515140.1:n.42-157T>C | |
| XM_011516839.2:c.42-157T>C | XP_011515141.1:n.42-157T>C | |
| XM_011516840.2:c.42-157T>C | XP_011515142.1:n.42-157T>C | |
| XM_011516841.2:c.42-157T>C | XP_011515143.1:n.42-157T>C | |
| XM_011516842.2:c.42-157T>C | XP_011515144.1:n.42-157T>C | |
| XM_017013027.2:c.42-157T>C | XP_016868516.1:n.42-157T>C | |
| XM_017013028.1:c.42-157T>C | XP_016868517.1:n.42-157T>C | |
| XM_017013029.1:c.42-157T>C | XP_016868518.1:n.42-157T>C | |
| XM_017013033.2:c.-83-157T>C | XP_016868522.1:n.-83-157T>C | |
| XM_024447062.1:c.-136-157T>C | XP_024302830.1:n.-136-157T>C | |
| NM_152416.4:c.198-157T>C MANE Select | NP_689629.2:n.198-157T>C | |
| NR_148913.2:n.218-157T>C | ||
| NR_148914.2:n.218-157T>C | ||
| NM_001330582.2:c.-83-157T>C | NP_001317511.1:n.-83-157T>C | |
| NM_001354514.2:c.-83-157T>C | NP_001341443.1:n.-83-157T>C | |
| NM_001354515.2:c.-83-157T>C | NP_001341444.1:n.-83-157T>C | |
| NM_001354516.2:c.42-157T>C | NP_001341445.1:n.42-157T>C | |
| NM_001354517.2:c.-36-3616T>C | NP_001341446.1:n.-36-3616T>C | |
| NM_001354518.2:c.-255-157T>C | NP_001341447.1:n.-255-157T>C | |
| NM_001354519.2:c.-251-157T>C | NP_001341448.1:n.-251-157T>C | |
| NM_001354521.2:c.-83-157T>C | NP_001341450.1:n.-83-157T>C | |
| NM_001354522.2:c.-383-157T>C | NP_001341451.1:n.-383-157T>C | |
| NM_001354524.2:c.-456-157T>C | NP_001341453.1:n.-456-157T>C | |
| NM_001354525.2:c.-456-157T>C | NP_001341454.1:n.-456-157T>C | |
| NM_001354527.2:c.-600-157T>C | NP_001341456.1:n.-600-157T>C | |
| NM_001354528.2:c.-571-157T>C | NP_001341457.1:n.-571-157T>C | |
| NM_001354529.2:c.-383-157T>C | NP_001341458.1:n.-383-157T>C | |
| NM_001354530.2:c.-485-157T>C | NP_001341459.1:n.-485-157T>C | |
| NM_001354531.2:c.-481-157T>C | NP_001341460.1:n.-481-157T>C | |
| NM_001354532.2:c.-489-157T>C | NP_001341461.1:n.-489-157T>C | |
| NM_001354533.2:c.-452-157T>C | NP_001341462.1:n.-452-157T>C | |
| NM_001354534.2:c.-136-157T>C | NP_001341463.1:n.-136-157T>C | |
| NR_148910.2:n.218-157T>C | ||
| NR_148911.2:n.218-157T>C | ||
| NR_148912.2:n.218-157T>C | ||
| NR_148915.2:n.218-157T>C |