Linked Data
ClinVar Variation Id:
379641
dbSNP Id:
rs61747073
ExAC:
2:27682309 C / T
gnomAD v2:
2-27682309-C-T
gnomAD v3:
2-27459442-C-T
gnomAD v4:
2-27459442-C-T
COSMIC:
COSM3695450
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27459442C>T , CM000664.2:g.27459442C>T | GRCh38 |
| NC_000002.11:g.27682309C>T , CM000664.1:g.27682309C>T | GRCh37 |
| NC_000002.10:g.27535813C>T | NCBI36 |
| NG_034068.1:g.35370G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.2723G>A MANE Select | ENSP00000260570.3:p.Arg908Gln | |
| ENST00000674701.1:c.*1896G>A | ENSP00000502275.1:n.*1896G>A | |
| ENST00000674824.1:c.*738G>A | ENSP00000501824.1:n.*738G>A | |
| ENST00000674932.1:c.*2320G>A | ENSP00000501967.1:n.*2320G>A | |
| ENST00000675410.1:c.2042G>A | ENSP00000502030.1:p.Arg681Gln | |
| ENST00000675690.1:c.2657G>A | ENSP00000502283.1:p.Arg886Gln | |
| ENST00000676119.1:c.*2013G>A | ENSP00000501701.1:n.*2013G>A | |
| ENST00000260570.7:c.2723G>A | ENSP00000260570.3:p.Arg908Gln | |
| ENST00000507184.5:n.2855G>A | ||
| NM_015662.2:c.2723G>A | NP_056477.1:p.Arg908Gln | |
| XM_005264254.1:c.2657G>A | XP_005264311.1:p.Arg886Gln | |
| XM_006711986.2:c.2660G>A | XP_006712049.1:p.Arg887Gln | |
| XM_006711987.1:c.2723G>A | XP_006712050.1:p.Arg908Gln | |
| XM_011532757.1:c.2042G>A | XP_011531059.1:p.Arg681Gln | |
| XM_011532758.1:c.2723G>A | XP_011531060.1:p.Arg908Gln | |
| XM_011532759.1:c.1163G>A | XP_011531061.1:p.Arg388Gln | |
| XM_011532760.1:c.788G>A | XP_011531062.1:p.Arg263Gln | |
| XM_006711986.3:c.2660G>A | XP_006712049.1:p.Arg887Gln | |
| XM_011532757.2:c.2042G>A | XP_011531059.1:p.Arg681Gln | |
| XM_011532759.2:c.1163G>A | XP_011531061.1:p.Arg388Gln | |
| XM_011532760.2:c.788G>A | XP_011531062.1:p.Arg263Gln | |
| XM_017003790.1:c.2594G>A | XP_016859279.1:p.Arg865Gln | |
| XM_017003791.1:c.2042G>A | XP_016859280.1:p.Arg681Gln | |
| XM_017003792.1:c.2723G>A | XP_016859281.1:p.Arg908Gln | |
| XM_017003793.1:c.860G>A | XP_016859282.1:p.Arg287Gln | |
| XM_017003794.1:c.860G>A | XP_016859283.1:p.Arg287Gln | |
| XM_017003795.1:c.656G>A | XP_016859284.1:p.Arg219Gln | |
| XR_001738698.1:n.2778G>A | ||
| NM_015662.3:c.2723G>A MANE Select | NP_056477.1:p.Arg908Gln |