Linked Data
ClinVar Variation Id:
333590
dbSNP Id:
rs200417604
ExAC:
2:202580523 C / T
gnomAD v2:
2-202580523-C-T
gnomAD v3:
2-201715800-C-T
gnomAD v4:
2-201715800-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201715800C>T , CM000664.2:g.201715800C>T | GRCh38 |
| NC_000002.11:g.202580523C>T , CM000664.1:g.202580523C>T | GRCh37 |
| NC_000002.10:g.202288768C>T | NCBI36 |
| NG_008775.1:g.70373G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.3876G>A MANE Select | ENSP00000264276.6:p.Lys1292= | |
| ENST00000439495.6:c.*56G>A | ENSP00000403832.2:n.*56G>A | |
| ENST00000679409.1:c.*346G>A | ENSP00000506531.1:n.*346G>A | |
| ENST00000679416.1:n.5380G>A | ||
| ENST00000679435.1:c.3876G>A | ENSP00000505218.1:p.Lys1292= | |
| ENST00000679516.1:c.3876G>A | ENSP00000505187.1:p.Lys1292= | |
| ENST00000679618.1:c.*964G>A | ENSP00000506274.1:n.*964G>A | |
| ENST00000679630.1:n.5725G>A | ||
| ENST00000679686.1:n.3990G>A | ||
| ENST00000679701.1:n.6868G>A | ||
| ENST00000679916.1:c.*224G>A | ENSP00000506172.1:n.*224G>A | |
| ENST00000680000.1:c.3876G>A | ENSP00000506173.1:p.Lys1292= | |
| ENST00000680135.1:c.*1837G>A | ENSP00000506211.1:n.*1837G>A | |
| ENST00000680149.1:c.3873G>A | ENSP00000506497.1:p.Lys1291= | |
| ENST00000680163.1:c.3876G>A | ENSP00000505092.1:p.Lys1292= | |
| ENST00000680174.1:n.4567G>A | ||
| ENST00000680236.1:c.*937G>A | ENSP00000506212.1:n.*937G>A | |
| ENST00000680441.1:n.2434G>A | ||
| ENST00000680497.1:c.3978G>A | ENSP00000505954.1:p.Lys1326= | |
| ENST00000680508.1:c.3873G>A | ENSP00000505749.1:p.Lys1291= | |
| ENST00000680569.1:c.*1584G>A | ENSP00000505522.1:n.*1584G>A | |
| ENST00000680630.1:n.4308G>A | ||
| ENST00000680634.1:n.384G>A | ||
| ENST00000680722.1:n.1676G>A | ||
| ENST00000680726.1:c.3876G>A | ENSP00000505505.1:p.Lys1292= | |
| ENST00000680737.1:n.4147G>A | ||
| ENST00000680759.1:c.3836+2277G>A | ENSP00000505848.1:n.3836+2277G>A | |
| ENST00000680814.1:c.3876G>A | ENSP00000505710.1:p.Lys1292= | |
| ENST00000680828.1:c.*1570G>A | ENSP00000505249.1:n.*1570G>A | |
| ENST00000680861.1:c.3876G>A | ENSP00000505043.1:p.Lys1292= | |
| ENST00000680927.1:c.*56G>A | ENSP00000505473.1:n.*56G>A | |
| ENST00000680939.1:n.4218G>A | ||
| ENST00000681250.1:c.*593G>A | ENSP00000505684.1:n.*593G>A | |
| ENST00000681256.1:c.*1891G>A | ENSP00000505446.1:n.*1891G>A | |
| ENST00000681279.1:n.4742G>A | ||
| ENST00000681307.1:n.4989G>A | ||
| ENST00000681461.1:n.4644G>A | ||
| ENST00000681495.1:c.1413G>A | ENSP00000506085.1:p.Lys471= | |
| ENST00000681558.1:c.1554G>A | ENSP00000505568.1:p.Lys518= | |
| ENST00000681619.1:c.3873G>A | ENSP00000505071.1:p.Lys1291= | |
| ENST00000681663.1:n.782G>A | ||
| ENST00000681716.1:c.*1730G>A | ENSP00000505078.1:n.*1730G>A | |
| ENST00000681758.1:n.4218G>A | ||
| ENST00000681768.1:c.*1540G>A | ENSP00000506311.1:n.*1540G>A | |
| ENST00000681808.1:c.3876G>A | ENSP00000505219.1:p.Lys1292= | |
| ENST00000264276.10:c.3876G>A | ENSP00000264276.6:p.Lys1292= | |
| ENST00000439495.5:c.1980G>A | ||
| NM_020919.3:c.3876G>A | NP_065970.2:p.Lys1292= | |
| XM_005246709.2:c.3873G>A | XP_005246766.1:p.Lys1291= | |
| XM_006712654.1:c.3876G>A | XP_006712717.1:p.Lys1292= | |
| XM_006712655.2:c.1812G>A | XP_006712718.1:p.Lys604= | |
| XM_011511530.1:c.3537G>A | XP_011509832.1:p.Lys1179= | |
| XM_011511531.1:c.3876G>A | XP_011509833.1:p.Lys1292= | |
| XR_922974.1:n.4154G>A | ||
| XM_006712654.3:c.3876G>A | XP_006712717.1:p.Lys1292= | |
| XM_006712655.3:c.1812G>A | XP_006712718.1:p.Lys604= | |
| XM_017004569.2:c.3873G>A | XP_016860058.1:p.Lys1291= | |
| XM_017004570.2:c.3876G>A | XP_016860059.1:p.Lys1292= | |
| XM_017004572.2:c.1494G>A | XP_016860061.1:p.Lys498= | |
| XM_024453024.1:c.3537G>A | XP_024308792.1:p.Lys1179= | |
| XM_024453025.1:c.1809G>A | XP_024308793.1:p.Lys603= | |
| XR_001738864.2:n.4011G>A | ||
| XR_001738865.2:n.4008G>A | ||
| XR_001738866.2:n.4154G>A | ||
| XR_001738867.2:n.4151G>A | ||
| XR_002959320.1:n.3067G>A | ||
| NM_020919.4:c.3876G>A MANE Select | NP_065970.2:p.Lys1292= |