Linked Data
ClinVar Variation Id:
297081
dbSNP Id:
rs146706631
gnomAD v2:
1-26795750-C-G
gnomAD v3:
1-26469259-C-G
gnomAD v4:
1-26469259-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26469259C>G , CM000663.2:g.26469259C>G | GRCh38 |
| NC_000001.10:g.26795750C>G , CM000663.1:g.26795750C>G | GRCh37 |
| NC_000001.9:g.26668337C>G | NCBI36 |
| NG_029786.1:g.41978C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528557.6:c.*128C>G | ENSP00000515248.1:n.*128C>G | |
| ENST00000703198.1:c.*128C>G | ENSP00000515227.1:n.*128C>G | |
| ENST00000703199.1:c.*128C>G | ENSP00000515228.1:n.*128C>G | |
| ENST00000703201.1:c.*2079C>G | ENSP00000515230.1:n.*2079C>G | |
| ENST00000703202.1:c.*128C>G | ENSP00000515231.1:n.*128C>G | |
| ENST00000703203.1:c.*2076C>G | ENSP00000515232.1:n.*2076C>G | |
| ENST00000703262.1:c.*162C>G | ENSP00000515247.1:n.*162C>G | |
| ENST00000703263.1:c.*661C>G | ENSP00000515249.1:n.*661C>G | |
| ENST00000236342.12:c.*128C>G MANE Select | ENSP00000236342.7:n.*128C>G | |
| ENST00000236342.11:c.*128C>G | ENSP00000236342.7:n.*128C>G | |
| ENST00000360009.6:c.*128C>G | ENSP00000353104.2:n.*128C>G | |
| ENST00000431933.5:c.638C>G | ENSP00000399781.1:n.638C>G | |
| ENST00000434391.6:c.*931C>G | ENSP00000403529.2:n.*931C>G | |
| ENST00000525682.6:c.*128C>G | ENSP00000434984.1:n.*128C>G | |
| NM_001243564.1:c.*128C>G | NP_001230493.1:n.*128C>G | |
| NM_001243565.1:c.*128C>G | NP_001230494.1:n.*128C>G | |
| NM_024887.3:c.*128C>G | NP_079163.2:n.*128C>G | |
| NM_205861.2:c.*128C>G | NP_995583.1:n.*128C>G | |
| XM_006710912.1:c.*128C>G | XP_006710975.1:n.*128C>G | |
| XM_006710913.1:c.*128C>G | XP_006710976.1:n.*128C>G | |
| XM_006710914.1:c.*128C>G | XP_006710977.1:n.*128C>G | |
| XM_006710915.1:c.*128C>G | XP_006710978.1:n.*128C>G | |
| XM_006710916.1:c.*128C>G | XP_006710979.1:n.*128C>G | |
| XM_006710917.1:c.*128C>G | XP_006710980.1:n.*128C>G | |
| XM_006710918.1:c.*128C>G | XP_006710981.1:n.*128C>G | |
| XM_006710919.1:c.*128C>G | XP_006710982.1:n.*128C>G | |
| XM_011542183.1:c.*128C>G | XP_011540485.1:n.*128C>G | |
| XM_011542184.1:c.*128C>G | XP_011540486.1:n.*128C>G | |
| XM_011542185.1:c.*128C>G | XP_011540487.1:n.*128C>G | |
| XM_011542186.1:c.*128C>G | XP_011540488.1:n.*128C>G | |
| NM_001319959.1:c.*128C>G | NP_001306888.1:n.*128C>G | |
| NM_205861.3:c.*128C>G MANE Select | NP_995583.1:n.*128C>G | |
| NM_001243564.2:c.*128C>G | NP_001230493.1:n.*128C>G | |
| NM_001243565.2:c.*128C>G | NP_001230494.1:n.*128C>G | |
| NM_001319959.2:c.*128C>G | NP_001306888.1:n.*128C>G | |
| NM_024887.4:c.*128C>G | NP_079163.2:n.*128C>G |