Linked Data
ClinVar Variation Id:
356561
dbSNP Id:
rs74946910
ExAC:
6:36262153 G / A
gnomAD v2:
6-36262153-G-A
gnomAD v3:
6-36294376-G-A
gnomAD v4:
6-36294376-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36294376G>A , CM000668.2:g.36294376G>A | GRCh38 |
| NC_000006.11:g.36262153G>A , CM000668.1:g.36262153G>A | GRCh37 |
| NC_000006.10:g.36370131G>A | NCBI36 |
| NG_032813.1:g.56209G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636260.2:c.691G>A MANE Select | ENSP00000490785.2:p.Ala231Thr | |
| ENST00000312917.9:c.433G>A | ENSP00000321116.5:p.Ala145Thr | |
| ENST00000388715.7:c.406G>A | ENSP00000373367.3:p.Ala136Thr | |
| ENST00000394571.3:c.691G>A | ENSP00000378072.2:p.Ala231Thr | |
| ENST00000457797.5:c.694G>A | ENSP00000391868.1:p.Ala232Thr | |
| NM_001145716.2:c.433G>A | NP_001139188.1:p.Ala145Thr | |
| NM_001145717.1:c.691G>A | NP_001139189.2:p.Ala231Thr | |
| NM_173676.2:c.406G>A | NP_775947.2:p.Ala136Thr | |
| XM_011514519.1:c.691G>A | XP_011512821.1:p.Ala231Thr | |
| XM_011514520.1:c.406G>A | XP_011512822.1:p.Ala136Thr | |
| XM_011514521.1:c.406G>A | XP_011512823.1:p.Ala136Thr | |
| XM_011514522.1:c.406G>A | XP_011512824.1:p.Ala136Thr | |
| XM_011514523.1:c.244G>A | XP_011512825.1:p.Ala82Thr | |
| XM_011514524.1:c.220G>A | XP_011512826.1:p.Ala74Thr | |
| XM_011514525.1:c.691G>A | XP_011512827.1:p.Ala231Thr | |
| XM_011514526.1:c.614G>A | XP_011512828.1:p.Arg205His | |
| XM_011514519.2:c.691G>A | XP_011512821.1:p.Ala231Thr | |
| XM_011514520.2:c.406G>A | XP_011512822.1:p.Ala136Thr | |
| XM_017010776.1:c.718G>A | XP_016866265.1:p.Ala240Thr | |
| XM_017010777.2:c.718G>A | XP_016866266.1:p.Ala240Thr | |
| XM_017010778.1:c.433G>A | XP_016866267.1:p.Ala145Thr | |
| XM_017010779.1:c.160G>A | XP_016866268.1:p.Ala54Thr | |
| NM_001374623.1:c.691G>A MANE Select | NP_001361552.1:p.Ala231Thr |