Linked Data
dbSNP Id:
rs201257902
ExAC:
2:44121711 C / T
gnomAD v2:
2-44121711-C-T
gnomAD v3:
2-43894572-C-T
gnomAD v4:
2-43894572-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43894572C>T , CM000664.2:g.43894572C>T | GRCh38 |
| NC_000002.11:g.44121711C>T , CM000664.1:g.44121711C>T | GRCh37 |
| NC_000002.10:g.43975215C>T | NCBI36 |
| NG_008247.1:g.106434G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.588G>A | ||
| ENST00000681993.1:n.1510G>A | ||
| ENST00000682154.1:n.1392G>A | ||
| ENST00000682303.1:c.*3669G>A | ENSP00000508325.1:n.*3669G>A | |
| ENST00000682308.1:c.3883G>A | ENSP00000507056.1:p.Ala1295Thr | |
| ENST00000682434.1:n.3513G>A | ||
| ENST00000682480.1:c.3976G>A | ENSP00000508344.1:p.Ala1326Thr | |
| ENST00000682546.1:c.3955G>A | ENSP00000508188.1:p.Ala1319Thr | |
| ENST00000682585.1:c.*86G>A | ENSP00000506885.1:n.*86G>A | |
| ENST00000682607.1:c.2701G>A | ||
| ENST00000682612.1:c.752+2062G>A | ||
| ENST00000682696.1:c.58G>A | ENSP00000508411.1:p.Ala20Thr | |
| ENST00000682779.1:c.3949G>A | ENSP00000507947.1:p.Ala1317Thr | |
| ENST00000682885.1:c.3913G>A | ENSP00000508036.1:p.Ala1305Thr | |
| ENST00000682933.1:n.4158G>A | ||
| ENST00000683002.1:c.810G>A | ||
| ENST00000683072.1:n.4542G>A | ||
| ENST00000683080.1:n.1577G>A | ||
| ENST00000683096.1:n.2399G>A | ||
| ENST00000683125.1:c.4066G>A | ENSP00000507939.1:p.Ala1356Thr | |
| ENST00000683213.1:c.3961G>A | ENSP00000507751.1:p.Ala1321Thr | |
| ENST00000683220.1:c.3988G>A | ENSP00000507151.1:p.Ala1330Thr | |
| ENST00000683329.1:n.4761G>A | ||
| ENST00000683346.1:c.*3833G>A | ENSP00000507458.1:n.*3833G>A | |
| ENST00000683409.1:n.2490G>A | ||
| ENST00000683459.1:n.4545G>A | ||
| ENST00000683590.1:c.3631G>A | ENSP00000506820.1:p.Ala1211Thr | |
| ENST00000683623.1:c.3865G>A | ENSP00000507702.1:p.Ala1289Thr | |
| ENST00000683796.1:c.*3755G>A | ENSP00000508221.1:n.*3755G>A | |
| ENST00000683833.1:c.3874G>A | ENSP00000506852.1:p.Ala1292Thr | |
| ENST00000683994.1:c.*71G>A | ENSP00000507181.1:n.*71G>A | |
| ENST00000684290.1:c.*1419G>A | ENSP00000507243.1:n.*1419G>A | |
| ENST00000684306.1:c.*3871G>A | ENSP00000508384.1:n.*3871G>A | |
| ENST00000684383.1:c.*3596G>A | ENSP00000506863.1:n.*3596G>A | |
| ENST00000684418.1:n.5139G>A | ||
| ENST00000684433.1:n.342G>A | ||
| ENST00000684454.1:n.7822G>A | ||
| ENST00000684619.1:c.*3830G>A | ENSP00000508088.1:n.*3830G>A | |
| ENST00000684743.1:n.6703G>A | ||
| ENST00000260665.12:c.3958G>A MANE Select | ENSP00000260665.7:p.Ala1320Thr | |
| ENST00000260665.11:c.3958G>A | ENSP00000260665.7:p.Ala1320Thr | |
| ENST00000419884.5:c.199G>A | ENSP00000414207.1:p.Ala67Thr | |
| ENST00000463456.5:n.3001G>A | ||
| NM_133259.3:c.3958G>A | NP_573566.2:p.Ala1320Thr | |
| XM_006711915.2:c.3880G>A | XP_006711978.1:p.Ala1294Thr | |
| XM_011532473.1:c.3883G>A | XP_011530775.1:p.Ala1295Thr | |
| XM_011532474.1:c.3958G>A | XP_011530776.1:p.Ala1320Thr | |
| XM_017003117.1:c.3805G>A | XP_016858606.1:p.Ala1269Thr | |
| XR_002958896.1:n.4000G>A | ||
| NM_133259.4:c.3958G>A MANE Select | NP_573566.2:p.Ala1320Thr |