Linked Data
ClinVar Variation Id:
1079561
ClinVar RCV Id:
RCV001394897
dbSNP Id:
rs370204045
ExAC:
2:27676586 G / A
gnomAD v2:
2-27676586-G-A
gnomAD v3:
2-27453719-G-A
gnomAD v4:
2-27453719-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27453719G>A , CM000664.2:g.27453719G>A | GRCh38 |
| NC_000002.11:g.27676586G>A , CM000664.1:g.27676586G>A | GRCh37 |
| NC_000002.10:g.27530090G>A | NCBI36 |
| NG_034068.1:g.41093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.3732C>T MANE Select | ENSP00000260570.3:p.Asp1244= | |
| ENST00000674701.1:c.*3245C>T | ENSP00000502275.1:n.*3245C>T | |
| ENST00000674824.1:c.*2180C>T | ENSP00000501824.1:n.*2180C>T | |
| ENST00000674932.1:c.*4178C>T | ENSP00000501967.1:n.*4178C>T | |
| ENST00000675410.1:c.*1603C>T | ENSP00000502030.1:n.*1603C>T | |
| ENST00000675690.1:c.3666C>T | ENSP00000502283.1:p.Asp1222= | |
| ENST00000676119.1:c.*3022C>T | ENSP00000501701.1:n.*3022C>T | |
| ENST00000260570.7:c.3732C>T | ENSP00000260570.3:p.Asp1244= | |
| ENST00000443889.1:c.337C>T | ||
| ENST00000450564.1:c.154-206C>T | ENSP00000399017.1:n.154-206C>T | |
| ENST00000475909.1:n.50C>T | ||
| ENST00000507184.5:n.4013C>T | ||
| ENST00000509128.5:c.127C>T | ||
| NM_015662.2:c.3732C>T | NP_056477.1:p.Asp1244= | |
| XM_005264254.1:c.3666C>T | XP_005264311.1:p.Asp1222= | |
| XM_006711986.2:c.3669C>T | XP_006712049.1:p.Asp1223= | |
| XM_006711987.1:c.3732C>T | XP_006712050.1:p.Asp1244= | |
| XM_011532757.1:c.3051C>T | XP_011531059.1:p.Asp1017= | |
| XM_011532758.1:c.3732C>T | XP_011531060.1:p.Asp1244= | |
| XM_011532759.1:c.2172C>T | XP_011531061.1:p.Asp724= | |
| XM_011532760.1:c.1797C>T | XP_011531062.1:p.Asp599= | |
| XM_006711986.3:c.3669C>T | XP_006712049.1:p.Asp1223= | |
| XM_011532757.2:c.3051C>T | XP_011531059.1:p.Asp1017= | |
| XM_011532759.2:c.2172C>T | XP_011531061.1:p.Asp724= | |
| XM_011532760.2:c.1797C>T | XP_011531062.1:p.Asp599= | |
| XM_017003790.1:c.3603C>T | XP_016859279.1:p.Asp1201= | |
| XM_017003791.1:c.3051C>T | XP_016859280.1:p.Asp1017= | |
| XM_017003792.1:c.3712-206C>T | XP_016859281.1:n.3712-206C>T | |
| XM_017003793.1:c.1869C>T | XP_016859282.1:p.Asp623= | |
| XM_017003794.1:c.1869C>T | XP_016859283.1:p.Asp623= | |
| XM_017003795.1:c.1665C>T | XP_016859284.1:p.Asp555= | |
| XR_001738698.1:n.3767-206C>T | ||
| NM_015662.3:c.3732C>T MANE Select | NP_056477.1:p.Asp1244= |