Linked Data
ClinVar Variation Id:
214595
dbSNP Id:
rs140482502
ExAC:
2:44126673 T / C
gnomAD v2:
2-44126673-T-C
gnomAD v3:
2-43899534-T-C
gnomAD v4:
2-43899534-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43899534T>C , CM000664.2:g.43899534T>C | GRCh38 |
| NC_000002.11:g.44126673T>C , CM000664.1:g.44126673T>C | GRCh37 |
| NC_000002.10:g.43980177T>C | NCBI36 |
| NG_008247.1:g.101472A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000419884.6:c.72A>G | ||
| ENST00000472420.6:n.720A>G | ||
| ENST00000483489.2:n.72A>G | ||
| ENST00000681993.1:n.1193A>G | ||
| ENST00000682303.1:c.*3427A>G | ENSP00000508325.1:n.*3427A>G | |
| ENST00000682308.1:c.3641A>G | ENSP00000507056.1:p.Gln1214Arg | |
| ENST00000682434.1:n.1192A>G | ||
| ENST00000682480.1:c.3659A>G | ENSP00000508344.1:p.Gln1220Arg | |
| ENST00000682546.1:c.3638A>G | ENSP00000508188.1:p.Gln1213Arg | |
| ENST00000682585.1:c.3641A>G | ENSP00000506885.1:p.Gln1214Arg | |
| ENST00000682595.1:n.4225A>G | ||
| ENST00000682607.1:c.2059A>G | ||
| ENST00000682612.1:c.493A>G | ||
| ENST00000682779.1:c.3632A>G | ENSP00000507947.1:p.Gln1211Arg | |
| ENST00000682845.1:n.2743A>G | ||
| ENST00000682885.1:c.3596A>G | ENSP00000508036.1:p.Gln1199Arg | |
| ENST00000682933.1:n.3715A>G | ||
| ENST00000683002.1:c.493A>G | ||
| ENST00000683072.1:n.4225A>G | ||
| ENST00000683080.1:n.1260A>G | ||
| ENST00000683125.1:c.3749A>G | ENSP00000507939.1:p.Gln1250Arg | |
| ENST00000683213.1:c.3644A>G | ENSP00000507751.1:p.Gln1215Arg | |
| ENST00000683220.1:c.3671A>G | ENSP00000507151.1:p.Gln1224Arg | |
| ENST00000683329.1:n.4444A>G | ||
| ENST00000683346.1:c.*3516A>G | ENSP00000507458.1:n.*3516A>G | |
| ENST00000683409.1:n.2248A>G | ||
| ENST00000683459.1:n.4228A>G | ||
| ENST00000683528.1:c.569A>G | ||
| ENST00000683590.1:c.3389A>G | ENSP00000506820.1:p.Gln1130Arg | |
| ENST00000683623.1:c.3548A>G | ENSP00000507702.1:p.Gln1183Arg | |
| ENST00000683645.1:n.4192A>G | ||
| ENST00000683796.1:c.*3513A>G | ENSP00000508221.1:n.*3513A>G | |
| ENST00000683802.1:n.6566A>G | ||
| ENST00000683833.1:c.3632A>G | ENSP00000506852.1:p.Gln1211Arg | |
| ENST00000683994.1:c.3641A>G | ENSP00000507181.1:p.Gln1214Arg | |
| ENST00000684290.1:c.*1177A>G | ENSP00000507243.1:n.*1177A>G | |
| ENST00000684306.1:c.*3554A>G | ENSP00000508384.1:n.*3554A>G | |
| ENST00000684341.1:n.3661A>G | ||
| ENST00000684383.1:c.*3279A>G | ENSP00000506863.1:n.*3279A>G | |
| ENST00000684418.1:n.4822A>G | ||
| ENST00000684454.1:n.2991A>G | ||
| ENST00000684619.1:c.*3513A>G | ENSP00000508088.1:n.*3513A>G | |
| ENST00000684743.1:n.6386A>G | ||
| ENST00000260665.12:c.3641A>G MANE Select | ENSP00000260665.7:p.Gln1214Arg | |
| ENST00000260665.11:c.3641A>G | ENSP00000260665.7:p.Gln1214Arg | |
| ENST00000463456.5:n.2684A>G | ||
| ENST00000472420.5:n.38A>G | ||
| ENST00000483489.1:n.115A>G | ||
| NM_133259.3:c.3641A>G | NP_573566.2:p.Gln1214Arg | |
| XM_006711915.2:c.3563A>G | XP_006711978.1:p.Gln1188Arg | |
| XM_011532473.1:c.3641A>G | XP_011530775.1:p.Gln1214Arg | |
| XM_011532474.1:c.3641A>G | XP_011530776.1:p.Gln1214Arg | |
| XM_017003117.1:c.3563A>G | XP_016858606.1:p.Gln1188Arg | |
| XR_002958896.1:n.3683A>G | ||
| NM_133259.4:c.3641A>G MANE Select | NP_573566.2:p.Gln1214Arg |