Linked Data
dbSNP Id:
rs200364467
gnomAD v2:
12-40693032-A-T
gnomAD v3:
12-40299230-A-T
gnomAD v4:
12-40299230-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40299230A>T , CM000674.2:g.40299230A>T | GRCh38 |
| NC_000012.11:g.40693032A>T , CM000674.1:g.40693032A>T | GRCh37 |
| NC_000012.10:g.38979299A>T | NCBI36 |
| NG_011709.1:g.79220A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.3469A>T MANE Select | ENSP00000298910.7:p.Ser1157Cys | |
| ENST00000679360.1:c.*2378A>T | ENSP00000505368.1:n.*2378A>T | |
| ENST00000680790.1:c.3214A>T | ENSP00000505335.1:p.Ser1072Cys | |
| ENST00000298910.11:c.3469A>T | ENSP00000298910.7:p.Ser1157Cys | |
| ENST00000343742.6:c.3469A>T | ENSP00000341930.2:p.Ser1157Cys | |
| ENST00000430804.5:c.513A>T | ||
| ENST00000479187.5:n.150A>T | ||
| NM_198578.3:c.3469A>T | NP_940980.3:p.Ser1157Cys | |
| XM_005268629.2:c.3469A>T | XP_005268686.1:p.Ser1157Cys | |
| XM_011537877.1:c.3469A>T | XP_011536179.1:p.Ser1157Cys | |
| XM_011537878.1:c.3469A>T | XP_011536180.1:p.Ser1157Cys | |
| XM_011537879.1:c.2266A>T | XP_011536181.1:p.Ser756Cys | |
| XM_011537880.1:c.3469A>T | XP_011536182.1:p.Ser1157Cys | |
| XM_011537881.1:c.3469A>T | XP_011536183.1:p.Ser1157Cys | |
| XM_011537882.1:c.3469A>T | XP_011536184.1:p.Ser1157Cys | |
| XM_005268629.4:c.3469A>T | XP_005268686.1:p.Ser1157Cys | |
| XM_011537877.3:c.3469A>T | XP_011536179.1:p.Ser1157Cys | |
| XM_011537881.3:c.3469A>T | XP_011536183.1:p.Ser1157Cys | |
| XM_011537882.3:c.3469A>T | XP_011536184.1:p.Ser1157Cys | |
| XM_017018786.2:c.3469A>T | XP_016874275.1:p.Ser1157Cys | |
| XM_017018787.1:c.385A>T | XP_016874276.1:p.Ser129Cys | |
| XM_017018789.2:c.3469A>T | XP_016874278.1:p.Ser1157Cys | |
| XM_024448833.1:c.2266A>T | XP_024304601.1:p.Ser756Cys | |
| XR_001748574.2:n.3711A>T | ||
| NM_198578.4:c.3469A>T MANE Select | NP_940980.4:p.Ser1157Cys |