Linked Data
dbSNP Id:
rs1407566991
gnomAD v2:
2-44145403-C-T
gnomAD v3:
2-43918264-C-T
gnomAD v4:
2-43918264-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918264C>T , CM000664.2:g.43918264C>T | GRCh38 |
| NC_000002.11:g.44145403C>T , CM000664.1:g.44145403C>T | GRCh37 |
| NC_000002.10:g.43998907C>T | NCBI36 |
| NG_008247.1:g.82742G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.583G>A | ||
| ENST00000682295.1:c.295G>A | ENSP00000507499.1:p.Val99Ile | |
| ENST00000682303.1:c.*2817G>A | ENSP00000508325.1:n.*2817G>A | |
| ENST00000682308.1:c.3031G>A | ENSP00000507056.1:p.Val1011Ile | |
| ENST00000682480.1:c.3031G>A | ENSP00000508344.1:p.Val1011Ile | |
| ENST00000682546.1:c.3028G>A | ENSP00000508188.1:p.Val1010Ile | |
| ENST00000682585.1:c.3031G>A | ENSP00000506885.1:p.Val1011Ile | |
| ENST00000682595.1:n.3615G>A | ||
| ENST00000682607.1:c.1449G>A | ||
| ENST00000682779.1:c.3022G>A | ENSP00000507947.1:p.Val1008Ile | |
| ENST00000682845.1:n.2133G>A | ||
| ENST00000682885.1:c.2986G>A | ENSP00000508036.1:p.Val996Ile | |
| ENST00000682933.1:n.3105G>A | ||
| ENST00000683072.1:n.3615G>A | ||
| ENST00000683080.1:n.650G>A | ||
| ENST00000683125.1:c.3139G>A | ENSP00000507939.1:p.Val1047Ile | |
| ENST00000683213.1:c.3034G>A | ENSP00000507751.1:p.Val1012Ile | |
| ENST00000683220.1:c.3061G>A | ENSP00000507151.1:p.Val1021Ile | |
| ENST00000683236.1:c.361G>A | ENSP00000506891.1:n.361G>A | |
| ENST00000683329.1:n.3834G>A | ||
| ENST00000683346.1:c.*2906G>A | ENSP00000507458.1:n.*2906G>A | |
| ENST00000683409.1:n.1638G>A | ||
| ENST00000683459.1:n.3618G>A | ||
| ENST00000683590.1:c.2897-5706G>A | ENSP00000506820.1:n.2897-5706G>A | |
| ENST00000683623.1:c.2938G>A | ENSP00000507702.1:p.Val980Ile | |
| ENST00000683645.1:n.3582G>A | ||
| ENST00000683796.1:c.*2903G>A | ENSP00000508221.1:n.*2903G>A | |
| ENST00000683802.1:n.5956G>A | ||
| ENST00000683833.1:c.3022G>A | ENSP00000506852.1:p.Val1008Ile | |
| ENST00000683994.1:c.3031G>A | ENSP00000507181.1:p.Val1011Ile | |
| ENST00000684290.1:c.*567G>A | ENSP00000507243.1:n.*567G>A | |
| ENST00000684306.1:c.*2944G>A | ENSP00000508384.1:n.*2944G>A | |
| ENST00000684341.1:n.3051G>A | ||
| ENST00000684383.1:c.*2669G>A | ENSP00000506863.1:n.*2669G>A | |
| ENST00000684619.1:c.*2903G>A | ENSP00000508088.1:n.*2903G>A | |
| ENST00000684705.1:n.152G>A | ||
| ENST00000684743.1:n.4062G>A | ||
| ENST00000260665.12:c.3031G>A MANE Select | ENSP00000260665.7:p.Val1011Ile | |
| ENST00000260665.11:c.3031G>A | ENSP00000260665.7:p.Val1011Ile | |
| NM_133259.3:c.3031G>A | NP_573566.2:p.Val1011Ile | |
| XM_006711915.2:c.2953G>A | XP_006711978.1:p.Val985Ile | |
| XM_006711916.2:c.3031G>A | XP_006711979.1:p.Val1011Ile | |
| XM_011532473.1:c.3031G>A | XP_011530775.1:p.Val1011Ile | |
| XM_011532474.1:c.3031G>A | XP_011530776.1:p.Val1011Ile | |
| XM_006711916.3:c.3031G>A | XP_006711979.1:p.Val1011Ile | |
| XM_017003117.1:c.2953G>A | XP_016858606.1:p.Val985Ile | |
| XR_002958896.1:n.3073G>A | ||
| NM_133259.4:c.3031G>A MANE Select | NP_573566.2:p.Val1011Ile |