Linked Data
dbSNP Id:
rs1887922
gnomAD v2:
10-94224165-C-T
gnomAD v3:
10-92464408-C-T
gnomAD v4:
10-92464408-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92464408C>T , CM000672.2:g.92464408C>T | GRCh38 |
| NC_000010.10:g.94224165C>T , CM000672.1:g.94224165C>T | GRCh37 |
| NC_000010.9:g.94214145C>T | NCBI36 |
| NG_013012.1:g.114688G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650060.2:c.2489-405G>A | ENSP00000497272.1:n.2489-405G>A | |
| ENST00000265986.11:c.2489-405G>A MANE Select | ENSP00000265986.6:n.2489-405G>A | |
| ENST00000650060.1:c.2489-405G>A | ENSP00000497272.1:n.2489-405G>A | |
| ENST00000676540.1:c.2567-405G>A | ENSP00000504633.1:n.2567-405G>A | |
| ENST00000676626.1:n.3375-405G>A | ||
| ENST00000676816.1:c.2489-405G>A | ENSP00000504709.1:n.2489-405G>A | |
| ENST00000676987.1:n.2184-3156G>A | ||
| ENST00000677079.1:c.2489-405G>A | ENSP00000503417.1:n.2489-405G>A | |
| ENST00000677096.1:c.*2485-405G>A | ENSP00000503793.1:n.*2485-405G>A | |
| ENST00000677193.1:n.3449-405G>A | ||
| ENST00000677434.1:c.*732-405G>A | ENSP00000503274.1:n.*732-405G>A | |
| ENST00000677569.1:c.*1186-405G>A | ENSP00000503462.1:n.*1186-405G>A | |
| ENST00000678026.1:n.3375-405G>A | ||
| ENST00000678082.1:n.1054-405G>A | ||
| ENST00000678458.1:n.2481-405G>A | ||
| ENST00000678673.1:c.2321-3156G>A | ENSP00000503082.1:n.2321-3156G>A | |
| ENST00000678715.1:c.2366-405G>A | ENSP00000503025.1:n.2366-405G>A | |
| ENST00000678824.1:c.716-405G>A | ENSP00000503571.1:n.716-405G>A | |
| ENST00000678844.1:c.*783-405G>A | ENSP00000504561.1:n.*783-405G>A | |
| ENST00000678977.1:n.4064-405G>A | ||
| ENST00000679069.1:n.4061-405G>A | ||
| ENST00000679089.1:c.2488+1268G>A | ENSP00000504067.1:n.2488+1268G>A | |
| ENST00000679174.1:c.*1242-405G>A | ENSP00000504758.1:n.*1242-405G>A | |
| ENST00000679222.1:c.*1041-405G>A | ENSP00000504070.1:n.*1041-405G>A | |
| ENST00000679232.1:c.*2536-405G>A | ENSP00000503818.1:n.*2536-405G>A | |
| ENST00000679304.1:n.2163-405G>A | ||
| ENST00000679312.1:c.*595-405G>A | ENSP00000504442.1:n.*595-405G>A | |
| ENST00000265986.10:c.2489-405G>A | ENSP00000265986.6:n.2489-405G>A | |
| ENST00000371581.9:c.824-405G>A | ENSP00000360637.5:n.824-405G>A | |
| ENST00000496903.5:n.1121-405G>A | ||
| NM_001165946.1:c.824-405G>A | NP_001159418.1:n.824-405G>A | |
| NM_004969.3:c.2489-405G>A | NP_004960.2:n.2489-405G>A | |
| XM_005269766.2:c.2489-405G>A | XP_005269823.1:n.2489-405G>A | |
| NM_001322793.1:c.2489-405G>A | NP_001309722.1:n.2489-405G>A | |
| NM_001322794.1:c.2372-405G>A | NP_001309723.1:n.2372-405G>A | |
| NM_001322795.1:c.2366-405G>A | NP_001309724.1:n.2366-405G>A | |
| NM_001322796.1:c.2366-405G>A | NP_001309725.1:n.2366-405G>A | |
| NM_001322797.1:c.824-405G>A | NP_001309726.1:n.824-405G>A | |
| NR_136399.1:n.2689-405G>A | ||
| XM_017016187.1:c.2366-405G>A | XP_016871676.1:n.2366-405G>A | |
| XM_017016188.1:c.2366-405G>A | XP_016871677.1:n.2366-405G>A | |
| XM_017016189.1:c.2366-405G>A | XP_016871678.1:n.2366-405G>A | |
| XM_017016190.1:c.2366-405G>A | XP_016871679.1:n.2366-405G>A | |
| NM_004969.4:c.2489-405G>A MANE Select | NP_004960.2:n.2489-405G>A | |
| NM_001165946.2:c.824-405G>A | NP_001159418.1:n.824-405G>A | |
| NM_001322793.2:c.2489-405G>A | NP_001309722.1:n.2489-405G>A | |
| NM_001322794.2:c.2372-405G>A | NP_001309723.1:n.2372-405G>A | |
| NM_001322795.2:c.2366-405G>A | NP_001309724.1:n.2366-405G>A | |
| NM_001322797.2:c.824-405G>A | NP_001309726.1:n.824-405G>A | |
| NR_136399.2:n.2687-405G>A |