Linked Data
ClinVar Variation Id:
2712385
ClinVar RCV Id:
RCV003547949
dbSNP Id:
rs757098419
ExAC:
3:136057214 A / T
gnomAD v2:
3-136057214-A-T
gnomAD v3:
3-136338372-A-T
gnomAD v4:
3-136338372-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136338372A>T , CM000665.2:g.136338372A>T | GRCh38 |
| NC_000003.11:g.136057214A>T , CM000665.1:g.136057214A>T | GRCh37 |
| NC_000003.10:g.137539904A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383202.7:c.3751T>A MANE Select | ENSP00000372689.2:p.Ser1251Thr | |
| ENST00000236698.9:c.3640T>A | ENSP00000236698.5:p.Ser1214Thr | |
| ENST00000383202.6:c.3751T>A | ENSP00000372689.2:p.Ser1251Thr | |
| ENST00000434713.6:c.2971T>A | ENSP00000404396.2:p.Ser991Thr | |
| ENST00000483235.5:c.*3741T>A | ENSP00000419093.1:n.*3741T>A | |
| ENST00000629124.2:c.*3390T>A | ENSP00000486745.1:n.*3390T>A | |
| NM_005862.2:c.3751T>A | NP_005853.2:p.Ser1251Thr | |
| XM_011512329.1:c.3340T>A | XP_011510631.1:p.Ser1114Thr | |
| XM_011512330.1:c.3340T>A | XP_011510632.1:p.Ser1114Thr | |
| XM_011512331.1:c.3340T>A | XP_011510633.1:p.Ser1114Thr | |
| XM_011512332.1:c.3073T>A | XP_011510634.1:p.Ser1025Thr | |
| XM_011512333.1:c.3340T>A | XP_011510635.1:p.Ser1114Thr | |
| XM_011512329.2:c.3340T>A | XP_011510631.1:p.Ser1114Thr | |
| XM_011512331.2:c.3340T>A | XP_011510633.1:p.Ser1114Thr | |
| XM_017005523.1:c.3340T>A | XP_016861012.1:p.Ser1114Thr | |
| XM_017005524.2:c.3073T>A | XP_016861013.1:p.Ser1025Thr | |
| XM_017005525.1:c.2440T>A | XP_016861014.1:p.Ser814Thr | |
| NM_005862.3:c.3751T>A MANE Select | NP_005853.2:p.Ser1251Thr |