Linked Data
ClinVar Variation Id:
2029504
ClinVar RCV Id:
RCV002880856
dbSNP Id:
rs968890615
gnomAD v2:
3-123366237-T-C
gnomAD v3:
3-123647390-T-C
gnomAD v4:
3-123647390-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123647390T>C , CM000665.2:g.123647390T>C | GRCh38 |
| NC_000003.11:g.123366237T>C , CM000665.1:g.123366237T>C | GRCh37 |
| NC_000003.10:g.124848927T>C | NCBI36 |
| NG_029111.1:g.241913A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346322.10:c.4246A>G | ENSP00000320622.6:p.Lys1416Glu | |
| ENST00000508240.2:c.853A>G | ENSP00000422984.2:p.Lys285Glu | |
| ENST00000513111.2:n.583A>G | ||
| ENST00000684879.1:n.2085A>G | ||
| ENST00000685021.1:c.1687A>G | ENSP00000508447.1:p.Lys563Glu | |
| ENST00000685259.1:c.1972A>G | ||
| ENST00000685907.1:n.2234A>G | ||
| ENST00000685953.1:c.853A>G | ENSP00000510593.1:p.Lys285Glu | |
| ENST00000686039.1:c.1837A>G | ||
| ENST00000686245.1:c.1570A>G | ENSP00000509313.1:p.Lys524Glu | |
| ENST00000686406.1:c.4453A>G | ENSP00000509044.1:p.Lys1485Glu | |
| ENST00000686458.1:n.955A>G | ||
| ENST00000686761.1:c.4453A>G | ENSP00000508758.1:p.Lys1485Glu | |
| ENST00000686822.1:n.4347A>G | ||
| ENST00000687434.1:c.*669A>G | ENSP00000509751.1:n.*669A>G | |
| ENST00000687709.1:n.2508A>G | ||
| ENST00000687848.1:c.4483A>G | ENSP00000508761.1:p.Lys1495Glu | |
| ENST00000688024.1:c.1687A>G | ENSP00000509803.1:p.Lys563Glu | |
| ENST00000688223.1:c.1649+1581A>G | ENSP00000508935.1:n.1649+1581A>G | |
| ENST00000689868.1:n.2181A>G | ||
| ENST00000689918.1:n.528A>G | ||
| ENST00000690086.1:n.554A>G | ||
| ENST00000690167.1:n.2124A>G | ||
| ENST00000690457.1:c.3691A>G | ENSP00000508777.1:p.Lys1231Glu | |
| ENST00000690534.1:n.974A>G | ||
| ENST00000691933.1:c.2077A>G | ||
| ENST00000692352.1:c.1991A>G | ||
| ENST00000693689.1:c.4246A>G | ENSP00000510503.1:p.Lys1416Glu | |
| ENST00000360304.8:c.4453A>G MANE Select | ENSP00000353452.3:p.Lys1485Glu | |
| ENST00000346322.9:c.4246A>G | ENSP00000320622.5:p.Lys1416Glu | |
| ENST00000354792.9:c.4246A>G | ENSP00000346846.6:p.Lys1416Glu | |
| ENST00000359169.5:c.4453A>G | ENSP00000352088.1:p.Lys1485Glu | |
| ENST00000360304.7:c.4453A>G | ENSP00000353452.3:p.Lys1485Glu | |
| ENST00000360772.7:c.4453A>G | ENSP00000354004.3:p.Lys1485Glu | |
| ENST00000464489.5:c.*4032A>G | ENSP00000417798.1:n.*4032A>G | |
| ENST00000475616.5:c.4453A>G | ENSP00000418335.1:p.Lys1485Glu | |
| ENST00000513111.1:n.165A>G | ||
| ENST00000514895.5:n.94+1581A>G | ||
| NM_053025.3:c.4453A>G | NP_444253.3:p.Lys1485Glu | |
| NM_053026.3:c.4246A>G | NP_444254.3:p.Lys1416Glu | |
| NM_053027.3:c.4453A>G | NP_444255.3:p.Lys1485Glu | |
| NM_053028.3:c.4246A>G | NP_444256.3:p.Lys1416Glu | |
| XM_011512860.1:c.4453A>G | XP_011511162.1:p.Lys1485Glu | |
| XM_011512861.1:c.4415+1581A>G | XP_011511163.1:n.4415+1581A>G | |
| XM_011512862.1:c.3925A>G | XP_011511164.1:p.Lys1309Glu | |
| NM_001321309.1:c.3925A>G | NP_001308238.1:p.Lys1309Glu | |
| XM_011512860.3:c.4483A>G | XP_011511162.2:p.Lys1495Glu | |
| XM_011512861.3:c.4445+1581A>G | XP_011511163.2:n.4445+1581A>G | |
| XM_017006469.2:c.1687A>G | XP_016861958.1:p.Lys563Glu | |
| XM_017006470.2:c.853A>G | XP_016861959.1:p.Lys285Glu | |
| XM_017006471.2:c.853A>G | XP_016861960.1:p.Lys285Glu | |
| XM_024453532.1:c.4483A>G | XP_024309300.1:p.Lys1495Glu | |
| XM_024453533.1:c.4453A>G | XP_024309301.1:p.Lys1485Glu | |
| XM_024453534.1:c.4276A>G | XP_024309302.1:p.Lys1426Glu | |
| XM_024453535.1:c.4246A>G | XP_024309303.1:p.Lys1416Glu | |
| XM_024453536.1:c.4453A>G | XP_024309304.1:p.Lys1485Glu | |
| XM_024453537.1:c.4453A>G | XP_024309305.1:p.Lys1485Glu | |
| NM_001321309.2:c.3925A>G | NP_001308238.1:p.Lys1309Glu | |
| NM_053025.4:c.4453A>G MANE Select | NP_444253.3:p.Lys1485Glu | |
| NM_053026.4:c.4246A>G | NP_444254.3:p.Lys1416Glu | |
| NM_053027.4:c.4453A>G | NP_444255.3:p.Lys1485Glu | |
| NM_053028.4:c.4246A>G | NP_444256.3:p.Lys1416Glu |