ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00077027 (EAS)
Genomes Max Group AF
0.0000685 (EAS)
Exomes Max Group AF
0.00082625 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38986274A>C , CM000664.2:g.38986274A>C | GRCh38 |
| NC_000002.11:g.39213415A>C , CM000664.1:g.39213415A>C | GRCh37 |
| NC_000002.10:g.39066919A>C | NCBI36 |
| NG_007530.1:g.139190T>G , LRG_754:g.139190T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2319T>G | ENSP00000509424.1:p.Pro773= | |
| ENST00000686849.1:n.343T>G | ||
| ENST00000690876.1:c.*858T>G | ENSP00000508955.1:n.*858T>G | |
| ENST00000692089.1:c.3399+1199T>G | ENSP00000508626.1:n.3399+1199T>G | |
| ENST00000692227.1:c.1162-911T>G | ENSP00000509138.1:n.1162-911T>G | |
| ENST00000402219.8:c.3552T>G MANE Select | ENSP00000384675.2:p.Pro1184= | |
| ENST00000395038.6:c.3507T>G | ENSP00000378479.2:p.Pro1169= | |
| ENST00000402219.6:c.3552T>G | ENSP00000384675.2:p.Pro1184= | |
| ENST00000426016.5:c.3552T>G | ENSP00000387784.1:p.Pro1184= | |
| ENST00000469581.1:n.295T>G | ||
| NM_005633.3:c.3552T>G , LRG_754t1:c.3552T>G | NP_005624.2:p.Pro1184= | |
| XM_005264515.3:c.3507T>G | XP_005264572.1:p.Pro1169= | |
| XM_011533060.1:c.3645T>G | XP_011531362.1:p.Pro1215= | |
| XM_011533061.1:c.3600T>G | XP_011531363.1:p.Pro1200= | |
| XM_011533062.1:c.3531T>G | XP_011531364.1:p.Pro1177= | |
| XM_011533063.1:c.3528T>G | XP_011531365.1:p.Pro1176= | |
| XM_011533064.1:c.3381T>G | XP_011531366.1:p.Pro1127= | |
| XM_011533065.1:c.3604-911T>G | XP_011531367.1:n.3604-911T>G | |
| XM_011533066.1:c.2487T>G | XP_011531368.1:p.Pro829= | |
| XM_005264515.4:c.3507T>G | XP_005264572.1:p.Pro1169= | |
| XM_011533062.2:c.3531T>G | XP_011531364.1:p.Pro1177= | |
| XM_011533064.2:c.3381T>G | XP_011531366.1:p.Pro1127= | |
| NM_001382394.1:c.3531T>G | NP_001369323.1:p.Pro1177= | |
| NM_001382395.1:c.3507T>G | NP_001369324.1:p.Pro1169= | |
| NM_005633.4:c.3552T>G MANE Select | NP_005624.2:p.Pro1184= |