Linked Data
dbSNP Id:
rs757304269
ExAC:
3:49064201 A / C
gnomAD v2:
3-49064201-A-C
gnomAD v4:
3-49026768-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026768A>C , CM000665.2:g.49026768A>C | GRCh38 |
| NC_000003.11:g.49064201A>C , CM000665.1:g.49064201A>C | GRCh37 |
| NC_000003.10:g.49039205A>C | NCBI36 |
| NG_012091.1:g.7675T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703936.1:c.2778T>G | ENSP00000515567.1:p.Cys926Trp | |
| ENST00000703937.1:c.*1839T>G | ENSP00000515568.1:n.*1839T>G | |
| ENST00000326739.9:c.738T>G MANE Select | ENSP00000321584.4:p.Cys246Trp | |
| ENST00000429182.6:c.738T>G | ENSP00000393525.2:p.Cys246Trp | |
| ENST00000442157.2:c.663T>G | ENSP00000403502.2:p.Cys221Trp | |
| ENST00000462980.2:n.1253T>G | ||
| ENST00000472328.2:n.804T>G | ||
| ENST00000491610.2:n.698T>G | ||
| ENST00000676607.1:n.1034T>G | ||
| ENST00000676627.1:n.1468T>G | ||
| ENST00000676708.1:n.2018T>G | ||
| ENST00000676864.1:n.1887T>G | ||
| ENST00000677010.1:c.774T>G | ENSP00000503089.1:p.Cys258Trp | |
| ENST00000677108.1:n.2644T>G | ||
| ENST00000677168.1:n.1210T>G | ||
| ENST00000677185.1:n.1301T>G | ||
| ENST00000677205.1:n.1522T>G | ||
| ENST00000677344.1:n.2012T>G | ||
| ENST00000677480.1:c.*415T>G | ENSP00000504378.1:n.*415T>G | |
| ENST00000677519.1:n.1448T>G | ||
| ENST00000677593.1:n.1294T>G | ||
| ENST00000677740.1:n.2243T>G | ||
| ENST00000677991.1:n.1911T>G | ||
| ENST00000678001.1:n.1231T>G | ||
| ENST00000678085.1:n.1294T>G | ||
| ENST00000678177.1:n.2587T>G | ||
| ENST00000678603.1:n.1816T>G | ||
| ENST00000678724.1:c.663T>G | ENSP00000503874.1:p.Cys221Trp | |
| ENST00000678920.1:n.896T>G | ||
| ENST00000679019.1:n.1508T>G | ||
| ENST00000679117.1:c.*553T>G | ENSP00000503240.1:n.*553T>G | |
| ENST00000679339.1:n.1579T>G | ||
| ENST00000326739.8:c.738T>G | ENSP00000321584.4:p.Cys246Trp | |
| ENST00000429182.5:c.532T>G | ||
| ENST00000442157.1:c.663T>G | ENSP00000403502.1:p.Cys221Trp | |
| ENST00000462980.1:n.640T>G | ||
| ENST00000491610.1:n.698T>G | ||
| NM_000884.2:c.738T>G | NP_000875.2:p.Cys246Trp | |
| XM_006713128.2:c.948T>G | XP_006713191.1:p.Cys316Trp | |
| XM_006713128.3:c.948T>G | XP_006713191.1:p.Cys316Trp | |
| XM_017006349.1:c.873T>G | XP_016861838.1:p.Cys291Trp | |
| XM_017006350.1:c.873T>G | XP_016861839.1:p.Cys291Trp | |
| NM_000884.3:c.738T>G MANE Select | NP_000875.2:p.Cys246Trp |