Linked Data
dbSNP Id:
rs368959543
ExAC:
17:649245 C / T
gnomAD v2:
17-649245-C-T
gnomAD v3:
17-746005-C-T
gnomAD v4:
17-746005-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.746005C>T , CM000679.2:g.746005C>T | GRCh38 |
| NC_000017.10:g.649245C>T , CM000679.1:g.649245C>T | GRCh37 |
| NC_000017.9:g.595995C>T | NCBI36 |
| NG_046938.1:g.11868G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319004.6:c.2038G>A MANE Select | ENSP00000321706.5:p.Ala680Thr | |
| ENST00000319004.5:c.2038G>A | ENSP00000321706.5:p.Ala680Thr | |
| ENST00000576778.1:c.2005G>A | ENSP00000459565.1:p.Ala669Thr | |
| NM_015721.2:c.2038G>A | NP_056536.2:p.Ala680Thr | |
| XM_005256667.3:c.2050G>A | XP_005256724.1:p.Ala684Thr | |
| XM_005256668.3:c.2050G>A | XP_005256725.1:p.Ala684Thr | |
| XM_005256670.3:c.2005G>A | XP_005256727.1:p.Ala669Thr | |
| XM_011523910.1:c.2050G>A | XP_011522212.1:p.Ala684Thr | |
| XM_011523911.1:c.2050G>A | XP_011522213.1:p.Ala684Thr | |
| XM_011523912.1:c.2005G>A | XP_011522214.1:p.Ala669Thr | |
| XM_011523913.1:c.2005G>A | XP_011522215.1:p.Ala669Thr | |
| XM_005256667.4:c.2050G>A | XP_005256724.1:p.Ala684Thr | |
| XM_005256670.5:c.2005G>A | XP_005256727.1:p.Ala669Thr | |
| XM_011523910.2:c.2050G>A | XP_011522212.1:p.Ala684Thr | |
| XM_011523911.2:c.2050G>A | XP_011522213.1:p.Ala684Thr | |
| XM_011523912.2:c.2005G>A | XP_011522214.1:p.Ala669Thr | |
| XM_011523913.2:c.2005G>A | XP_011522215.1:p.Ala669Thr | |
| XM_017024709.1:c.2050G>A | XP_016880198.1:p.Ala684Thr | |
| NM_015721.3:c.2038G>A MANE Select | NP_056536.2:p.Ala680Thr |