Linked Data
ClinVar Variation Id:
324164
dbSNP Id:
rs373491923
ExAC:
17:56291146 C / A
gnomAD v2:
17-56291146-C-A
gnomAD v3:
17-58213785-C-A
gnomAD v4:
17-58213785-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58213785C>A , CM000679.2:g.58213785C>A | GRCh38 |
| NC_000017.10:g.56291146C>A , CM000679.1:g.56291146C>A | GRCh37 |
| NC_000017.9:g.53646145C>A | NCBI36 |
| NG_013032.1:g.10821G>T , LRG_687:g.10821G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.729G>T | ENSP00000316631.6:p.Thr243= | |
| ENST00000393119.7:c.729G>T MANE Select | ENSP00000376827.2:p.Thr243= | |
| ENST00000537529.7:c.300G>T | ENSP00000442096.3:p.Thr100= | |
| ENST00000580127.6:c.729G>T | ENSP00000462423.2:p.Thr243= | |
| ENST00000581761.6:c.729G>T | ENSP00000462129.2:p.Thr243= | |
| ENST00000585134.2:c.729G>T | ENSP00000463826.2:p.Thr243= | |
| ENST00000675753.2:c.*348G>T | ENSP00000502156.1:n.*348G>T | |
| ENST00000676787.1:c.600G>T | ENSP00000503999.1:p.Thr200= | |
| ENST00000676975.1:c.594G>T | ENSP00000503970.1:n.594G>T | |
| ENST00000677076.1:n.2003G>T | ||
| ENST00000677111.1:c.729G>T | ENSP00000504282.1:p.Thr243= | |
| ENST00000677160.1:n.2003G>T | ||
| ENST00000677416.1:n.754G>T | ||
| ENST00000677475.1:n.2006G>T | ||
| ENST00000677486.1:c.*73G>T | ENSP00000503852.1:n.*73G>T | |
| ENST00000677546.1:c.*73G>T | ENSP00000504043.1:n.*73G>T | |
| ENST00000677709.1:n.754G>T | ||
| ENST00000678011.1:n.754G>T | ||
| ENST00000678211.1:n.2778G>T | ||
| ENST00000678432.1:c.*348G>T | ENSP00000504452.1:n.*348G>T | |
| ENST00000678463.1:c.729G>T | ENSP00000502984.1:p.Thr243= | |
| ENST00000678481.1:n.530G>T | ||
| ENST00000678568.1:c.*136G>T | ENSP00000504754.1:n.*136G>T | |
| ENST00000678641.1:c.*73G>T | ENSP00000503159.1:n.*73G>T | |
| ENST00000678928.1:n.2356G>T | ||
| ENST00000679081.1:n.2745G>T | ||
| ENST00000313863.10:c.729G>T | ENSP00000316631.6:p.Thr243= | |
| ENST00000393119.6:c.729G>T | ENSP00000376827.2:p.Thr243= | |
| ENST00000393120.6:c.*136G>T | ENSP00000376828.2:n.*136G>T | |
| ENST00000537529.6:c.699G>T | ENSP00000442096.2:p.Thr233= | |
| ENST00000577824.5:c.206G>T | ||
| ENST00000581761.5:c.*136G>T | ENSP00000462129.1:n.*136G>T | |
| NM_001165927.1:c.699G>T , LRG_687t2:c.699G>T | NP_001159399.1:p.Thr233= | |
| NM_017777.3:c.729G>T , LRG_687t1:c.729G>T | NP_060247.2:p.Thr243= | |
| XM_005257483.3:c.729G>T | XP_005257540.1:p.Thr243= | |
| XM_005257485.3:c.300G>T | XP_005257542.1:p.Thr100= | |
| XM_005257486.3:c.120G>T | XP_005257543.1:p.Thr40= | |
| XM_006721965.2:c.120G>T | XP_006722028.1:p.Thr40= | |
| XM_011524957.1:c.738G>T | XP_011523259.1:p.Thr246= | |
| XM_011524958.1:c.738G>T | XP_011523260.1:p.Thr246= | |
| XM_011524959.1:c.738G>T | XP_011523261.1:p.Thr246= | |
| XM_011524960.1:c.738G>T | XP_011523262.1:p.Thr246= | |
| XR_934494.1:n.786G>T | ||
| NM_001321268.1:c.120G>T | NP_001308197.1:p.Thr40= | |
| NM_001321269.1:c.729G>T | NP_001308198.1:p.Thr243= | |
| NM_001330397.1:c.729G>T | NP_001317326.1:p.Thr243= | |
| XM_005257485.4:c.300G>T | XP_005257542.1:p.Thr100= | |
| XM_006721965.3:c.120G>T | XP_006722028.1:p.Thr40= | |
| XM_011524957.2:c.738G>T | XP_011523259.1:p.Thr246= | |
| XM_011524958.2:c.738G>T | XP_011523260.1:p.Thr246= | |
| XM_011524959.2:c.738G>T | XP_011523261.1:p.Thr246= | |
| XM_011524960.2:c.738G>T | XP_011523262.1:p.Thr246= | |
| XM_017024804.2:c.729G>T | XP_016880293.1:p.Thr243= | |
| XM_017024805.1:c.300G>T | XP_016880294.1:p.Thr100= | |
| XR_002958042.1:n.783G>T | ||
| NM_001321268.2:c.120G>T | NP_001308197.1:p.Thr40= | |
| NM_001321269.2:c.729G>T | NP_001308198.1:p.Thr243= | |
| NM_001330397.2:c.729G>T | NP_001317326.1:p.Thr243= | |
| NM_017777.4:c.729G>T MANE Select | NP_060247.2:p.Thr243= |