Linked Data
dbSNP Id:
rs1463712180
gnomAD v2:
2-202568808-T-C
gnomAD v3:
2-201704085-T-C
gnomAD v4:
2-201704085-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201704085T>C , CM000664.2:g.201704085T>C | GRCh38 |
| NC_000002.11:g.202568808T>C , CM000664.1:g.202568808T>C | GRCh37 |
| NC_000002.10:g.202277053T>C | NCBI36 |
| NG_008775.1:g.82088A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.4935+37A>G MANE Select | ENSP00000264276.6:n.4935+37A>G | |
| ENST00000439495.6:c.*1115+37A>G | ENSP00000403832.2:n.*1115+37A>G | |
| ENST00000679409.1:c.*1677A>G | ENSP00000506531.1:n.*1677A>G | |
| ENST00000679416.1:n.6439+37A>G | ||
| ENST00000679427.1:n.2643A>G | ||
| ENST00000679435.1:c.4935+37A>G | ENSP00000505218.1:n.4935+37A>G | |
| ENST00000679516.1:c.4935+37A>G | ENSP00000505187.1:n.4935+37A>G | |
| ENST00000679618.1:c.*2023+37A>G | ENSP00000506274.1:n.*2023+37A>G | |
| ENST00000679630.1:n.6784+37A>G | ||
| ENST00000679635.1:n.3197+37A>G | ||
| ENST00000679686.1:n.5049+37A>G | ||
| ENST00000679701.1:n.7927+37A>G | ||
| ENST00000679916.1:c.*1283+37A>G | ENSP00000506172.1:n.*1283+37A>G | |
| ENST00000680000.1:c.*16A>G | ENSP00000506173.1:n.*16A>G | |
| ENST00000680135.1:c.*2896+37A>G | ENSP00000506211.1:n.*2896+37A>G | |
| ENST00000680149.1:c.*217+37A>G | ENSP00000506497.1:n.*217+37A>G | |
| ENST00000680163.1:c.4935+37A>G | ENSP00000505092.1:n.4935+37A>G | |
| ENST00000680174.1:n.5626+37A>G | ||
| ENST00000680236.1:c.*1996+37A>G | ENSP00000506212.1:n.*1996+37A>G | |
| ENST00000680404.1:n.487A>G | ||
| ENST00000680441.1:n.3493+37A>G | ||
| ENST00000680497.1:c.5037+37A>G | ENSP00000505954.1:n.5037+37A>G | |
| ENST00000680508.1:c.*91+37A>G | ENSP00000505749.1:n.*91+37A>G | |
| ENST00000680569.1:c.*2878+37A>G | ENSP00000505522.1:n.*2878+37A>G | |
| ENST00000680634.1:n.1443+37A>G | ||
| ENST00000680722.1:n.2735+37A>G | ||
| ENST00000680726.1:c.*217+37A>G | ENSP00000505505.1:n.*217+37A>G | |
| ENST00000680759.1:c.4767+37A>G | ENSP00000505848.1:n.4767+37A>G | |
| ENST00000680814.1:c.4838+369A>G | ENSP00000505710.1:n.4838+369A>G | |
| ENST00000680828.1:c.*2629+37A>G | ENSP00000505249.1:n.*2629+37A>G | |
| ENST00000680861.1:c.4935+37A>G | ENSP00000505043.1:n.4935+37A>G | |
| ENST00000680927.1:c.*1115+37A>G | ENSP00000505473.1:n.*1115+37A>G | |
| ENST00000680939.1:n.6913A>G | ||
| ENST00000681250.1:c.*1652+37A>G | ENSP00000505684.1:n.*1652+37A>G | |
| ENST00000681256.1:c.*2950+37A>G | ENSP00000505446.1:n.*2950+37A>G | |
| ENST00000681279.1:n.5801+37A>G | ||
| ENST00000681307.1:n.6048+37A>G | ||
| ENST00000681461.1:n.5703+37A>G | ||
| ENST00000681495.1:c.2472+37A>G | ENSP00000506085.1:n.2472+37A>G | |
| ENST00000681558.1:c.2613+37A>G | ENSP00000505568.1:n.2613+37A>G | |
| ENST00000681619.1:c.4932+37A>G | ENSP00000505071.1:n.4932+37A>G | |
| ENST00000681663.1:n.1841+37A>G | ||
| ENST00000681692.1:n.2895+37A>G | ||
| ENST00000681716.1:c.*2789+37A>G | ENSP00000505078.1:n.*2789+37A>G | |
| ENST00000681768.1:c.*2599+37A>G | ENSP00000506311.1:n.*2599+37A>G | |
| ENST00000681808.1:c.4758+37A>G | ENSP00000505219.1:n.4758+37A>G | |
| ENST00000264276.10:c.4935+37A>G | ENSP00000264276.6:n.4935+37A>G | |
| ENST00000439495.5:c.3039+37A>G | ||
| NM_020919.3:c.4935+37A>G | NP_065970.2:n.4935+37A>G | |
| XM_005246709.2:c.4932+37A>G | XP_005246766.1:n.4932+37A>G | |
| XM_006712654.1:c.4935+37A>G | XP_006712717.1:n.4935+37A>G | |
| XM_006712655.2:c.2871+37A>G | XP_006712718.1:n.2871+37A>G | |
| XM_011511530.1:c.4596+37A>G | XP_011509832.1:n.4596+37A>G | |
| XR_922974.1:n.5213+37A>G | ||
| XM_006712654.3:c.4935+37A>G | XP_006712717.1:n.4935+37A>G | |
| XM_006712655.3:c.2871+37A>G | XP_006712718.1:n.2871+37A>G | |
| XM_017004569.2:c.4932+37A>G | XP_016860058.1:n.4932+37A>G | |
| XM_017004572.2:c.2553+37A>G | XP_016860061.1:n.2553+37A>G | |
| XM_024453024.1:c.4596+37A>G | XP_024308792.1:n.4596+37A>G | |
| XM_024453025.1:c.2868+37A>G | XP_024308793.1:n.2868+37A>G | |
| XR_001738864.2:n.5050+37A>G | ||
| XR_001738865.2:n.5047+37A>G | ||
| XR_001738866.2:n.5213+37A>G | ||
| XR_001738867.2:n.5210+37A>G | ||
| XR_002959320.1:n.4106+37A>G | ||
| NM_020919.4:c.4935+37A>G MANE Select | NP_065970.2:n.4935+37A>G |