Linked Data
dbSNP Id:
rs770949474
ExAC:
2:44145181 C / T
gnomAD v2:
2-44145181-C-T
gnomAD v4:
2-43918042-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918042C>T , CM000664.2:g.43918042C>T | GRCh38 |
| NC_000002.11:g.44145181C>T , CM000664.1:g.44145181C>T | GRCh37 |
| NC_000002.10:g.43998685C>T | NCBI36 |
| NG_008247.1:g.82964G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.683G>A | ||
| ENST00000682295.1:c.303+214G>A | ENSP00000507499.1:n.303+214G>A | |
| ENST00000682303.1:c.*2917G>A | ENSP00000508325.1:n.*2917G>A | |
| ENST00000682308.1:c.3131G>A | ENSP00000507056.1:p.Arg1044Gln | |
| ENST00000682480.1:c.3149G>A | ENSP00000508344.1:p.Arg1050Gln | |
| ENST00000682546.1:c.3128G>A | ENSP00000508188.1:p.Arg1043Gln | |
| ENST00000682585.1:c.3131G>A | ENSP00000506885.1:p.Arg1044Gln | |
| ENST00000682595.1:n.3715G>A | ||
| ENST00000682607.1:c.1549G>A | ||
| ENST00000682779.1:c.3122G>A | ENSP00000507947.1:p.Arg1041Gln | |
| ENST00000682845.1:n.2233G>A | ||
| ENST00000682885.1:c.3086G>A | ENSP00000508036.1:p.Arg1029Gln | |
| ENST00000682933.1:n.3205G>A | ||
| ENST00000683072.1:n.3715G>A | ||
| ENST00000683080.1:n.750G>A | ||
| ENST00000683125.1:c.3239G>A | ENSP00000507939.1:p.Arg1080Gln | |
| ENST00000683213.1:c.3134G>A | ENSP00000507751.1:p.Arg1045Gln | |
| ENST00000683220.1:c.3161G>A | ENSP00000507151.1:p.Arg1054Gln | |
| ENST00000683329.1:n.3934G>A | ||
| ENST00000683346.1:c.*3006G>A | ENSP00000507458.1:n.*3006G>A | |
| ENST00000683409.1:n.1738G>A | ||
| ENST00000683459.1:n.3718G>A | ||
| ENST00000683590.1:c.2897-5484G>A | ENSP00000506820.1:n.2897-5484G>A | |
| ENST00000683623.1:c.3038G>A | ENSP00000507702.1:p.Arg1013Gln | |
| ENST00000683645.1:n.3682G>A | ||
| ENST00000683796.1:c.*3003G>A | ENSP00000508221.1:n.*3003G>A | |
| ENST00000683802.1:n.6056G>A | ||
| ENST00000683833.1:c.3122G>A | ENSP00000506852.1:p.Arg1041Gln | |
| ENST00000683994.1:c.3131G>A | ENSP00000507181.1:p.Arg1044Gln | |
| ENST00000684290.1:c.*667G>A | ENSP00000507243.1:n.*667G>A | |
| ENST00000684306.1:c.*3044G>A | ENSP00000508384.1:n.*3044G>A | |
| ENST00000684341.1:n.3151G>A | ||
| ENST00000684383.1:c.*2769G>A | ENSP00000506863.1:n.*2769G>A | |
| ENST00000684619.1:c.*3003G>A | ENSP00000508088.1:n.*3003G>A | |
| ENST00000684705.1:n.252G>A | ||
| ENST00000684743.1:n.4162G>A | ||
| ENST00000260665.12:c.3131G>A MANE Select | ENSP00000260665.7:p.Arg1044Gln | |
| ENST00000260665.11:c.3131G>A | ENSP00000260665.7:p.Arg1044Gln | |
| NM_133259.3:c.3131G>A | NP_573566.2:p.Arg1044Gln | |
| XM_006711915.2:c.3053G>A | XP_006711978.1:p.Arg1018Gln | |
| XM_006711916.2:c.3131G>A | XP_006711979.1:p.Arg1044Gln | |
| XM_011532473.1:c.3131G>A | XP_011530775.1:p.Arg1044Gln | |
| XM_011532474.1:c.3131G>A | XP_011530776.1:p.Arg1044Gln | |
| XM_006711916.3:c.3131G>A | XP_006711979.1:p.Arg1044Gln | |
| XM_017003117.1:c.3053G>A | XP_016858606.1:p.Arg1018Gln | |
| XR_002958896.1:n.3173G>A | ||
| NM_133259.4:c.3131G>A MANE Select | NP_573566.2:p.Arg1044Gln |