Linked Data
dbSNP Id:
rs761131483
ExAC:
2:44145523 A / T
gnomAD v2:
2-44145523-A-T
gnomAD v3:
2-43918384-A-T
gnomAD v4:
2-43918384-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918384A>T , CM000664.2:g.43918384A>T | GRCh38 |
| NC_000002.11:g.44145523A>T , CM000664.1:g.44145523A>T | GRCh37 |
| NC_000002.10:g.43999027A>T | NCBI36 |
| NG_008247.1:g.82622T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.463T>A | ||
| ENST00000682295.1:c.175T>A | ENSP00000507499.1:p.Trp59Arg | |
| ENST00000682303.1:c.*2697T>A | ENSP00000508325.1:n.*2697T>A | |
| ENST00000682308.1:c.2911T>A | ENSP00000507056.1:p.Trp971Arg | |
| ENST00000682480.1:c.2911T>A | ENSP00000508344.1:p.Trp971Arg | |
| ENST00000682546.1:c.2908T>A | ENSP00000508188.1:p.Trp970Arg | |
| ENST00000682585.1:c.2911T>A | ENSP00000506885.1:p.Trp971Arg | |
| ENST00000682595.1:n.3495T>A | ||
| ENST00000682607.1:c.1329T>A | ||
| ENST00000682779.1:c.2902T>A | ENSP00000507947.1:p.Trp968Arg | |
| ENST00000682845.1:n.2013T>A | ||
| ENST00000682885.1:c.2866T>A | ENSP00000508036.1:p.Trp956Arg | |
| ENST00000682933.1:n.2985T>A | ||
| ENST00000683072.1:n.3495T>A | ||
| ENST00000683080.1:n.530T>A | ||
| ENST00000683125.1:c.3019T>A | ENSP00000507939.1:p.Trp1007Arg | |
| ENST00000683213.1:c.2914T>A | ENSP00000507751.1:p.Trp972Arg | |
| ENST00000683220.1:c.2941T>A | ENSP00000507151.1:p.Trp981Arg | |
| ENST00000683236.1:c.241T>A | ENSP00000506891.1:n.241T>A | |
| ENST00000683329.1:n.3714T>A | ||
| ENST00000683346.1:c.*2786T>A | ENSP00000507458.1:n.*2786T>A | |
| ENST00000683409.1:n.1518T>A | ||
| ENST00000683459.1:n.3498T>A | ||
| ENST00000683590.1:c.2897-5826T>A | ENSP00000506820.1:n.2897-5826T>A | |
| ENST00000683623.1:c.2818T>A | ENSP00000507702.1:p.Trp940Arg | |
| ENST00000683645.1:n.3462T>A | ||
| ENST00000683796.1:c.*2783T>A | ENSP00000508221.1:n.*2783T>A | |
| ENST00000683802.1:n.5836T>A | ||
| ENST00000683833.1:c.2902T>A | ENSP00000506852.1:p.Trp968Arg | |
| ENST00000683994.1:c.2911T>A | ENSP00000507181.1:p.Trp971Arg | |
| ENST00000684290.1:c.*447T>A | ENSP00000507243.1:n.*447T>A | |
| ENST00000684306.1:c.*2824T>A | ENSP00000508384.1:n.*2824T>A | |
| ENST00000684341.1:n.2931T>A | ||
| ENST00000684383.1:c.*2549T>A | ENSP00000506863.1:n.*2549T>A | |
| ENST00000684619.1:c.*2783T>A | ENSP00000508088.1:n.*2783T>A | |
| ENST00000684705.1:n.32T>A | ||
| ENST00000684743.1:n.3942T>A | ||
| ENST00000260665.12:c.2911T>A MANE Select | ENSP00000260665.7:p.Trp971Arg | |
| ENST00000260665.11:c.2911T>A | ENSP00000260665.7:p.Trp971Arg | |
| NM_133259.3:c.2911T>A | NP_573566.2:p.Trp971Arg | |
| XM_006711915.2:c.2833T>A | XP_006711978.1:p.Trp945Arg | |
| XM_006711916.2:c.2911T>A | XP_006711979.1:p.Trp971Arg | |
| XM_011532473.1:c.2911T>A | XP_011530775.1:p.Trp971Arg | |
| XM_011532474.1:c.2911T>A | XP_011530776.1:p.Trp971Arg | |
| XM_006711916.3:c.2911T>A | XP_006711979.1:p.Trp971Arg | |
| XM_017003117.1:c.2833T>A | XP_016858606.1:p.Trp945Arg | |
| XR_002958896.1:n.2953T>A | ||
| NM_133259.4:c.2911T>A MANE Select | NP_573566.2:p.Trp971Arg |