Linked Data
ClinVar Variation Id:
448940
dbSNP Id:
rs146383828
ExAC:
2:39222280 C / G
gnomAD v2:
2-39222280-C-G
gnomAD v3:
2-38995139-C-G
gnomAD v4:
2-38995139-C-G
ERepo:
CA1624221/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38995139C>G , CM000664.2:g.38995139C>G | GRCh38 |
| NC_000002.11:g.39222280C>G , CM000664.1:g.39222280C>G | GRCh37 |
| NC_000002.10:g.39075784C>G | NCBI36 |
| NG_007530.1:g.130325G>C , LRG_754:g.130325G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2097G>C | ENSP00000509424.1:p.Ser699= | |
| ENST00000690876.1:c.*636G>C | ENSP00000508955.1:n.*636G>C | |
| ENST00000691229.1:c.3099G>C | ENSP00000510437.1:p.Ser1033= | |
| ENST00000692089.1:c.3219G>C | ENSP00000508626.1:p.Ser1073= | |
| ENST00000692227.1:c.1026G>C | ENSP00000509138.1:p.Ser342= | |
| ENST00000692620.1:c.*917G>C | ENSP00000509311.1:n.*917G>C | |
| ENST00000402219.8:c.3330G>C MANE Select | ENSP00000384675.2:p.Ser1110= | |
| ENST00000395038.6:c.3330G>C | ENSP00000378479.2:p.Ser1110= | |
| ENST00000402219.6:c.3330G>C | ENSP00000384675.2:p.Ser1110= | |
| ENST00000426016.5:c.3330G>C | ENSP00000387784.1:p.Ser1110= | |
| NM_005633.3:c.3330G>C , LRG_754t1:c.3330G>C | NP_005624.2:p.Ser1110= | |
| XM_005264515.3:c.3330G>C | XP_005264572.1:p.Ser1110= | |
| XM_011533060.1:c.3423G>C | XP_011531362.1:p.Ser1141= | |
| XM_011533061.1:c.3423G>C | XP_011531363.1:p.Ser1141= | |
| XM_011533062.1:c.3309G>C | XP_011531364.1:p.Ser1103= | |
| XM_011533063.1:c.3306G>C | XP_011531365.1:p.Ser1102= | |
| XM_011533064.1:c.3159G>C | XP_011531366.1:p.Ser1053= | |
| XM_011533065.1:c.3423G>C | XP_011531367.1:p.Ser1141= | |
| XM_011533066.1:c.2265G>C | XP_011531368.1:p.Ser755= | |
| XM_005264515.4:c.3330G>C | XP_005264572.1:p.Ser1110= | |
| XM_011533062.2:c.3309G>C | XP_011531364.1:p.Ser1103= | |
| XM_011533064.2:c.3159G>C | XP_011531366.1:p.Ser1053= | |
| NM_001382394.1:c.3309G>C | NP_001369323.1:p.Ser1103= | |
| NM_001382395.1:c.3330G>C | NP_001369324.1:p.Ser1110= | |
| NM_005633.4:c.3330G>C MANE Select | NP_005624.2:p.Ser1110= |