Linked Data
dbSNP Id:
rs778079783
ExAC:
17:75398297 T / C
gnomAD v2:
17-75398297-T-C
gnomAD v4:
17-77402215-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77402215T>C , CM000679.2:g.77402215T>C | GRCh38 |
| NC_000017.10:g.75398297T>C , CM000679.1:g.75398297T>C | GRCh37 |
| NC_000017.9:g.72909892T>C | NCBI36 |
| NG_011683.1:g.125806T>C | |
| NG_011683.2:g.125806T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329047.13:c.179T>C MANE Plus Clinical | ENSP00000329161.8:p.Val60Ala | |
| ENST00000427177.6:c.233T>C MANE Select | ENSP00000391249.1:p.Val78Ala | |
| ENST00000588690.6:c.-260T>C | ENSP00000468668.1:n.-260T>C | |
| ENST00000590294.6:n.282T>C | ||
| ENST00000329047.12:c.179T>C | ENSP00000329161.8:p.Val60Ala | |
| ENST00000423034.6:c.212T>C | ENSP00000405877.1:p.Val71Ala | |
| ENST00000427177.5:c.233T>C | ENSP00000391249.1:p.Val78Ala | |
| ENST00000427674.6:c.-260T>C | ENSP00000403194.1:n.-260T>C | |
| ENST00000431235.6:c.-260T>C | ENSP00000406987.2:n.-260T>C | |
| ENST00000449803.6:c.-260T>C | ENSP00000400181.2:n.-260T>C | |
| ENST00000586812.1:n.292T>C | ||
| ENST00000587514.1:n.362T>C | ||
| ENST00000588575.1:c.37-122T>C | ENSP00000468090.1:n.37-122T>C | |
| ENST00000588690.5:c.-260T>C | ENSP00000468668.1:n.-260T>C | |
| ENST00000589070.1:c.188T>C | ENSP00000465332.1:p.Val63Ala | |
| ENST00000589140.1:c.188T>C | ENSP00000466997.1:p.Val63Ala | |
| ENST00000590059.5:c.25-341T>C | ENSP00000466164.1:n.25-341T>C | |
| ENST00000590294.5:c.179T>C | ENSP00000465464.1:p.Val60Ala | |
| ENST00000590576.5:c.*233T>C | ENSP00000465600.1:n.*233T>C | |
| ENST00000590586.1:n.338T>C | ||
| ENST00000590595.1:c.37-122T>C | ENSP00000465026.1:n.37-122T>C | |
| ENST00000590825.1:c.-260T>C | ENSP00000468244.1:n.-260T>C | |
| ENST00000591198.5:c.176T>C | ENSP00000468406.1:p.Val59Ala | |
| ENST00000591833.5:c.*228T>C | ENSP00000466684.1:n.*228T>C | |
| ENST00000591934.1:c.254T>C | ENSP00000468504.1:p.Val85Ala | |
| ENST00000592098.1:n.263T>C | ||
| ENST00000592420.1:c.-341T>C | ENSP00000467051.1:n.-341T>C | |
| NM_001113491.1:c.233T>C | NP_001106963.1:p.Val78Ala | |
| NM_001113492.1:c.-260T>C | NP_001106964.1:n.-260T>C | |
| NM_001113493.1:c.212T>C | NP_001106965.1:p.Val71Ala | |
| NM_001113494.1:c.-260T>C | NP_001106966.1:n.-260T>C | |
| NM_001293695.1:c.176T>C | NP_001280624.1:p.Val59Ala | |
| NM_006640.4:c.179T>C | NP_006631.2:p.Val60Ala | |
| XM_006721643.2:c.-260T>C | XP_006721706.1:n.-260T>C | |
| XM_011524204.1:c.326T>C | XP_011522506.1:p.Val109Ala | |
| XM_011524205.1:c.323T>C | XP_011522507.1:p.Val108Ala | |
| XM_011524206.1:c.188T>C | XP_011522508.1:p.Val63Ala | |
| XM_011524207.1:c.-260T>C | XP_011522509.1:n.-260T>C | |
| NM_001113491.2:c.233T>C MANE Select | NP_001106963.1:p.Val78Ala | |
| NM_001113493.2:c.212T>C | NP_001106965.1:p.Val71Ala | |
| NM_001293695.2:c.176T>C | NP_001280624.1:p.Val59Ala | |
| NM_001113492.2:c.-260T>C | NP_001106964.1:n.-260T>C | |
| NM_006640.5:c.179T>C MANE Plus Clinical | NP_006631.2:p.Val60Ala |