Linked Data
dbSNP Id:
rs534426684
gnomAD v2:
2-202568790-G-A
gnomAD v3:
2-201704067-G-A
gnomAD v4:
2-201704067-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201704067G>A , CM000664.2:g.201704067G>A | GRCh38 |
| NC_000002.11:g.202568790G>A , CM000664.1:g.202568790G>A | GRCh37 |
| NC_000002.10:g.202277035G>A | NCBI36 |
| NG_008775.1:g.82106C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.4935+55C>T MANE Select | ENSP00000264276.6:n.4935+55C>T | |
| ENST00000439495.6:c.*1115+55C>T | ENSP00000403832.2:n.*1115+55C>T | |
| ENST00000679409.1:c.*1695C>T | ENSP00000506531.1:n.*1695C>T | |
| ENST00000679416.1:n.6439+55C>T | ||
| ENST00000679427.1:n.2661C>T | ||
| ENST00000679435.1:c.4935+55C>T | ENSP00000505218.1:n.4935+55C>T | |
| ENST00000679516.1:c.4935+55C>T | ENSP00000505187.1:n.4935+55C>T | |
| ENST00000679618.1:c.*2023+55C>T | ENSP00000506274.1:n.*2023+55C>T | |
| ENST00000679630.1:n.6784+55C>T | ||
| ENST00000679635.1:n.3197+55C>T | ||
| ENST00000679686.1:n.5049+55C>T | ||
| ENST00000679701.1:n.7927+55C>T | ||
| ENST00000679916.1:c.*1283+55C>T | ENSP00000506172.1:n.*1283+55C>T | |
| ENST00000680000.1:c.*34C>T | ENSP00000506173.1:n.*34C>T | |
| ENST00000680135.1:c.*2896+55C>T | ENSP00000506211.1:n.*2896+55C>T | |
| ENST00000680149.1:c.*217+55C>T | ENSP00000506497.1:n.*217+55C>T | |
| ENST00000680163.1:c.4935+55C>T | ENSP00000505092.1:n.4935+55C>T | |
| ENST00000680174.1:n.5626+55C>T | ||
| ENST00000680236.1:c.*1996+55C>T | ENSP00000506212.1:n.*1996+55C>T | |
| ENST00000680404.1:n.505C>T | ||
| ENST00000680441.1:n.3493+55C>T | ||
| ENST00000680497.1:c.5037+55C>T | ENSP00000505954.1:n.5037+55C>T | |
| ENST00000680508.1:c.*91+55C>T | ENSP00000505749.1:n.*91+55C>T | |
| ENST00000680569.1:c.*2878+55C>T | ENSP00000505522.1:n.*2878+55C>T | |
| ENST00000680634.1:n.1443+55C>T | ||
| ENST00000680722.1:n.2735+55C>T | ||
| ENST00000680726.1:c.*217+55C>T | ENSP00000505505.1:n.*217+55C>T | |
| ENST00000680759.1:c.4767+55C>T | ENSP00000505848.1:n.4767+55C>T | |
| ENST00000680814.1:c.4838+387C>T | ENSP00000505710.1:n.4838+387C>T | |
| ENST00000680828.1:c.*2629+55C>T | ENSP00000505249.1:n.*2629+55C>T | |
| ENST00000680861.1:c.4935+55C>T | ENSP00000505043.1:n.4935+55C>T | |
| ENST00000680927.1:c.*1115+55C>T | ENSP00000505473.1:n.*1115+55C>T | |
| ENST00000680939.1:n.6931C>T | ||
| ENST00000681250.1:c.*1652+55C>T | ENSP00000505684.1:n.*1652+55C>T | |
| ENST00000681256.1:c.*2950+55C>T | ENSP00000505446.1:n.*2950+55C>T | |
| ENST00000681279.1:n.5801+55C>T | ||
| ENST00000681307.1:n.6048+55C>T | ||
| ENST00000681461.1:n.5703+55C>T | ||
| ENST00000681495.1:c.2472+55C>T | ENSP00000506085.1:n.2472+55C>T | |
| ENST00000681558.1:c.2613+55C>T | ENSP00000505568.1:n.2613+55C>T | |
| ENST00000681619.1:c.4932+55C>T | ENSP00000505071.1:n.4932+55C>T | |
| ENST00000681663.1:n.1841+55C>T | ||
| ENST00000681692.1:n.2895+55C>T | ||
| ENST00000681716.1:c.*2789+55C>T | ENSP00000505078.1:n.*2789+55C>T | |
| ENST00000681768.1:c.*2599+55C>T | ENSP00000506311.1:n.*2599+55C>T | |
| ENST00000681808.1:c.4758+55C>T | ENSP00000505219.1:n.4758+55C>T | |
| ENST00000264276.10:c.4935+55C>T | ENSP00000264276.6:n.4935+55C>T | |
| ENST00000439495.5:c.3039+55C>T | ||
| NM_020919.3:c.4935+55C>T | NP_065970.2:n.4935+55C>T | |
| XM_005246709.2:c.4932+55C>T | XP_005246766.1:n.4932+55C>T | |
| XM_006712654.1:c.4935+55C>T | XP_006712717.1:n.4935+55C>T | |
| XM_006712655.2:c.2871+55C>T | XP_006712718.1:n.2871+55C>T | |
| XM_011511530.1:c.4596+55C>T | XP_011509832.1:n.4596+55C>T | |
| XR_922974.1:n.5213+55C>T | ||
| XM_006712654.3:c.4935+55C>T | XP_006712717.1:n.4935+55C>T | |
| XM_006712655.3:c.2871+55C>T | XP_006712718.1:n.2871+55C>T | |
| XM_017004569.2:c.4932+55C>T | XP_016860058.1:n.4932+55C>T | |
| XM_017004572.2:c.2553+55C>T | XP_016860061.1:n.2553+55C>T | |
| XM_024453024.1:c.4596+55C>T | XP_024308792.1:n.4596+55C>T | |
| XM_024453025.1:c.2868+55C>T | XP_024308793.1:n.2868+55C>T | |
| XR_001738864.2:n.5050+55C>T | ||
| XR_001738865.2:n.5047+55C>T | ||
| XR_001738866.2:n.5213+55C>T | ||
| XR_001738867.2:n.5210+55C>T | ||
| XR_002959320.1:n.4106+55C>T | ||
| NM_020919.4:c.4935+55C>T MANE Select | NP_065970.2:n.4935+55C>T |