Linked Data
ClinVar Variation Id:
2230505
ClinVar RCV Id:
RCV002702861
dbSNP Id:
rs537954874
ExAC:
2:44145432 C / T
gnomAD v2:
2-44145432-C-T
gnomAD v4:
2-43918293-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918293C>T , CM000664.2:g.43918293C>T | GRCh38 |
| NC_000002.11:g.44145432C>T , CM000664.1:g.44145432C>T | GRCh37 |
| NC_000002.10:g.43998936C>T | NCBI36 |
| NG_008247.1:g.82713G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.554G>A | ||
| ENST00000682295.1:c.266G>A | ENSP00000507499.1:p.Arg89Lys | |
| ENST00000682303.1:c.*2788G>A | ENSP00000508325.1:n.*2788G>A | |
| ENST00000682308.1:c.3002G>A | ENSP00000507056.1:p.Arg1001Lys | |
| ENST00000682480.1:c.3002G>A | ENSP00000508344.1:p.Arg1001Lys | |
| ENST00000682546.1:c.2999G>A | ENSP00000508188.1:p.Arg1000Lys | |
| ENST00000682585.1:c.3002G>A | ENSP00000506885.1:p.Arg1001Lys | |
| ENST00000682595.1:n.3586G>A | ||
| ENST00000682607.1:c.1420G>A | ||
| ENST00000682779.1:c.2993G>A | ENSP00000507947.1:p.Arg998Lys | |
| ENST00000682845.1:n.2104G>A | ||
| ENST00000682885.1:c.2957G>A | ENSP00000508036.1:p.Arg986Lys | |
| ENST00000682933.1:n.3076G>A | ||
| ENST00000683072.1:n.3586G>A | ||
| ENST00000683080.1:n.621G>A | ||
| ENST00000683125.1:c.3110G>A | ENSP00000507939.1:p.Arg1037Lys | |
| ENST00000683213.1:c.3005G>A | ENSP00000507751.1:p.Arg1002Lys | |
| ENST00000683220.1:c.3032G>A | ENSP00000507151.1:p.Arg1011Lys | |
| ENST00000683236.1:c.332G>A | ENSP00000506891.1:n.332G>A | |
| ENST00000683329.1:n.3805G>A | ||
| ENST00000683346.1:c.*2877G>A | ENSP00000507458.1:n.*2877G>A | |
| ENST00000683409.1:n.1609G>A | ||
| ENST00000683459.1:n.3589G>A | ||
| ENST00000683590.1:c.2897-5735G>A | ENSP00000506820.1:n.2897-5735G>A | |
| ENST00000683623.1:c.2909G>A | ENSP00000507702.1:p.Arg970Lys | |
| ENST00000683645.1:n.3553G>A | ||
| ENST00000683796.1:c.*2874G>A | ENSP00000508221.1:n.*2874G>A | |
| ENST00000683802.1:n.5927G>A | ||
| ENST00000683833.1:c.2993G>A | ENSP00000506852.1:p.Arg998Lys | |
| ENST00000683994.1:c.3002G>A | ENSP00000507181.1:p.Arg1001Lys | |
| ENST00000684290.1:c.*538G>A | ENSP00000507243.1:n.*538G>A | |
| ENST00000684306.1:c.*2915G>A | ENSP00000508384.1:n.*2915G>A | |
| ENST00000684341.1:n.3022G>A | ||
| ENST00000684383.1:c.*2640G>A | ENSP00000506863.1:n.*2640G>A | |
| ENST00000684619.1:c.*2874G>A | ENSP00000508088.1:n.*2874G>A | |
| ENST00000684705.1:n.123G>A | ||
| ENST00000684743.1:n.4033G>A | ||
| ENST00000260665.12:c.3002G>A MANE Select | ENSP00000260665.7:p.Arg1001Lys | |
| ENST00000260665.11:c.3002G>A | ENSP00000260665.7:p.Arg1001Lys | |
| NM_133259.3:c.3002G>A | NP_573566.2:p.Arg1001Lys | |
| XM_006711915.2:c.2924G>A | XP_006711978.1:p.Arg975Lys | |
| XM_006711916.2:c.3002G>A | XP_006711979.1:p.Arg1001Lys | |
| XM_011532473.1:c.3002G>A | XP_011530775.1:p.Arg1001Lys | |
| XM_011532474.1:c.3002G>A | XP_011530776.1:p.Arg1001Lys | |
| XM_006711916.3:c.3002G>A | XP_006711979.1:p.Arg1001Lys | |
| XM_017003117.1:c.2924G>A | XP_016858606.1:p.Arg975Lys | |
| XR_002958896.1:n.3044G>A | ||
| NM_133259.4:c.3002G>A MANE Select | NP_573566.2:p.Arg1001Lys |