Linked Data
dbSNP Id:
rs780932819
ExAC:
12:40657719 G / T
gnomAD v2:
12-40657719-G-T
gnomAD v4:
12-40263917-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40263917G>T , CM000674.2:g.40263917G>T | GRCh38 |
| NC_000012.11:g.40657719G>T , CM000674.1:g.40657719G>T | GRCh37 |
| NC_000012.10:g.38943986G>T | NCBI36 |
| NG_011709.1:g.43907G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.1656+16G>T MANE Select | ENSP00000298910.7:n.1656+16G>T | |
| ENST00000679360.1:c.*565+16G>T | ENSP00000505368.1:n.*565+16G>T | |
| ENST00000680790.1:c.1401+16G>T | ENSP00000505335.1:n.1401+16G>T | |
| ENST00000298910.11:c.1656+16G>T | ENSP00000298910.7:n.1656+16G>T | |
| ENST00000343742.6:c.1656+16G>T | ENSP00000341930.2:n.1656+16G>T | |
| ENST00000416796.5:c.900+16G>T | ENSP00000398726.1:n.900+16G>T | |
| NM_198578.3:c.1656+16G>T | NP_940980.3:n.1656+16G>T | |
| XM_005268629.2:c.1656+16G>T | XP_005268686.1:n.1656+16G>T | |
| XM_011537877.1:c.1656+16G>T | XP_011536179.1:n.1656+16G>T | |
| XM_011537878.1:c.1656+16G>T | XP_011536180.1:n.1656+16G>T | |
| XM_011537879.1:c.453+16G>T | XP_011536181.1:n.453+16G>T | |
| XM_011537880.1:c.1656+16G>T | XP_011536182.1:n.1656+16G>T | |
| XM_011537881.1:c.1656+16G>T | XP_011536183.1:n.1656+16G>T | |
| XM_011537882.1:c.1656+16G>T | XP_011536184.1:n.1656+16G>T | |
| XM_005268629.4:c.1656+16G>T | XP_005268686.1:n.1656+16G>T | |
| XM_011537877.3:c.1656+16G>T | XP_011536179.1:n.1656+16G>T | |
| XM_011537881.3:c.1656+16G>T | XP_011536183.1:n.1656+16G>T | |
| XM_011537882.3:c.1656+16G>T | XP_011536184.1:n.1656+16G>T | |
| XM_017018786.2:c.1656+16G>T | XP_016874275.1:n.1656+16G>T | |
| XM_017018789.2:c.1656+16G>T | XP_016874278.1:n.1656+16G>T | |
| XM_024448833.1:c.453+16G>T | XP_024304601.1:n.453+16G>T | |
| XR_001748574.2:n.1898+16G>T | ||
| NM_198578.4:c.1656+16G>T MANE Select | NP_940980.4:n.1656+16G>T |