Linked Data
dbSNP Id:
rs199571890
ExAC:
17:649239 C / T
gnomAD v2:
17-649239-C-T
gnomAD v3:
17-745999-C-T
gnomAD v4:
17-745999-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.745999C>T , CM000679.2:g.745999C>T | GRCh38 |
| NC_000017.10:g.649239C>T , CM000679.1:g.649239C>T | GRCh37 |
| NC_000017.9:g.595989C>T | NCBI36 |
| NG_046938.1:g.11874G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319004.6:c.2044G>A MANE Select | ENSP00000321706.5:p.Ala682Thr | |
| ENST00000319004.5:c.2044G>A | ENSP00000321706.5:p.Ala682Thr | |
| ENST00000576778.1:c.2011G>A | ENSP00000459565.1:p.Ala671Thr | |
| NM_015721.2:c.2044G>A | NP_056536.2:p.Ala682Thr | |
| XM_005256667.3:c.2056G>A | XP_005256724.1:p.Ala686Thr | |
| XM_005256668.3:c.2056G>A | XP_005256725.1:p.Ala686Thr | |
| XM_005256670.3:c.2011G>A | XP_005256727.1:p.Ala671Thr | |
| XM_011523910.1:c.2056G>A | XP_011522212.1:p.Ala686Thr | |
| XM_011523911.1:c.2056G>A | XP_011522213.1:p.Ala686Thr | |
| XM_011523912.1:c.2011G>A | XP_011522214.1:p.Ala671Thr | |
| XM_011523913.1:c.2011G>A | XP_011522215.1:p.Ala671Thr | |
| XM_005256667.4:c.2056G>A | XP_005256724.1:p.Ala686Thr | |
| XM_005256670.5:c.2011G>A | XP_005256727.1:p.Ala671Thr | |
| XM_011523910.2:c.2056G>A | XP_011522212.1:p.Ala686Thr | |
| XM_011523911.2:c.2056G>A | XP_011522213.1:p.Ala686Thr | |
| XM_011523912.2:c.2011G>A | XP_011522214.1:p.Ala671Thr | |
| XM_011523913.2:c.2011G>A | XP_011522215.1:p.Ala671Thr | |
| XM_017024709.1:c.2056G>A | XP_016880198.1:p.Ala686Thr | |
| NM_015721.3:c.2044G>A MANE Select | NP_056536.2:p.Ala682Thr |