Linked Data
dbSNP Id:
rs370664735
ExAC:
3:49064149 C / T
gnomAD v2:
3-49064149-C-T
gnomAD v4:
3-49026716-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026716C>T , CM000665.2:g.49026716C>T | GRCh38 |
| NC_000003.11:g.49064149C>T , CM000665.1:g.49064149C>T | GRCh37 |
| NC_000003.10:g.49039153C>T | NCBI36 |
| NG_012091.1:g.7727G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703936.1:c.2830G>A | ENSP00000515567.1:p.Ala944Thr | |
| ENST00000703937.1:c.*1891G>A | ENSP00000515568.1:n.*1891G>A | |
| ENST00000326739.9:c.790G>A MANE Select | ENSP00000321584.4:p.Ala264Thr | |
| ENST00000429182.6:c.790G>A | ENSP00000393525.2:p.Ala264Thr | |
| ENST00000442157.2:c.715G>A | ENSP00000403502.2:p.Ala239Thr | |
| ENST00000462980.2:n.1305G>A | ||
| ENST00000472328.2:n.856G>A | ||
| ENST00000491610.2:n.750G>A | ||
| ENST00000676607.1:n.1086G>A | ||
| ENST00000676627.1:n.1520G>A | ||
| ENST00000676708.1:n.2070G>A | ||
| ENST00000676864.1:n.1939G>A | ||
| ENST00000677010.1:c.826G>A | ENSP00000503089.1:p.Ala276Thr | |
| ENST00000677108.1:n.2696G>A | ||
| ENST00000677168.1:n.1262G>A | ||
| ENST00000677185.1:n.1353G>A | ||
| ENST00000677205.1:n.1574G>A | ||
| ENST00000677344.1:n.2064G>A | ||
| ENST00000677480.1:c.*467G>A | ENSP00000504378.1:n.*467G>A | |
| ENST00000677519.1:n.1500G>A | ||
| ENST00000677593.1:n.1346G>A | ||
| ENST00000677740.1:n.2295G>A | ||
| ENST00000677991.1:n.1963G>A | ||
| ENST00000678001.1:n.1283G>A | ||
| ENST00000678085.1:n.1346G>A | ||
| ENST00000678177.1:n.2639G>A | ||
| ENST00000678603.1:n.1868G>A | ||
| ENST00000678724.1:c.715G>A | ENSP00000503874.1:p.Ala239Thr | |
| ENST00000678920.1:n.948G>A | ||
| ENST00000679019.1:n.1560G>A | ||
| ENST00000679117.1:c.*605G>A | ENSP00000503240.1:n.*605G>A | |
| ENST00000679339.1:n.1631G>A | ||
| ENST00000326739.8:c.790G>A | ENSP00000321584.4:p.Ala264Thr | |
| ENST00000429182.5:c.584G>A | ||
| ENST00000442157.1:c.715G>A | ENSP00000403502.1:p.Ala239Thr | |
| ENST00000462980.1:n.692G>A | ||
| ENST00000491610.1:n.750G>A | ||
| NM_000884.2:c.790G>A | NP_000875.2:p.Ala264Thr | |
| XM_006713128.2:c.1000G>A | XP_006713191.1:p.Ala334Thr | |
| XM_006713128.3:c.1000G>A | XP_006713191.1:p.Ala334Thr | |
| XM_017006349.1:c.925G>A | XP_016861838.1:p.Ala309Thr | |
| XM_017006350.1:c.925G>A | XP_016861839.1:p.Ala309Thr | |
| NM_000884.3:c.790G>A MANE Select | NP_000875.2:p.Ala264Thr |