Linked Data
ClinVar Variation Id:
379411
dbSNP Id:
rs56076827
ExAC:
2:27676287 A / T
gnomAD v2:
2-27676287-A-T
gnomAD v3:
2-27453420-A-T
gnomAD v4:
2-27453420-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27453420A>T , CM000664.2:g.27453420A>T | GRCh38 |
| NC_000002.11:g.27676287A>T , CM000664.1:g.27676287A>T | GRCh37 |
| NC_000002.10:g.27529791A>T | NCBI36 |
| NG_034068.1:g.41392T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.3915T>A MANE Select | ENSP00000260570.3:p.Ser1305= | |
| ENST00000674701.1:c.*3428T>A | ENSP00000502275.1:n.*3428T>A | |
| ENST00000674824.1:c.*2363T>A | ENSP00000501824.1:n.*2363T>A | |
| ENST00000674932.1:c.*4361T>A | ENSP00000501967.1:n.*4361T>A | |
| ENST00000675410.1:c.*1786T>A | ENSP00000502030.1:n.*1786T>A | |
| ENST00000675690.1:c.3849T>A | ENSP00000502283.1:p.Ser1283= | |
| ENST00000676119.1:c.*3205T>A | ENSP00000501701.1:n.*3205T>A | |
| ENST00000260570.7:c.3915T>A | ENSP00000260570.3:p.Ser1305= | |
| ENST00000443889.1:c.520T>A | ||
| ENST00000450564.1:c.247T>A | ENSP00000399017.1:p.Trp83Arg | |
| ENST00000475909.1:n.233T>A | ||
| ENST00000507184.5:n.4196T>A | ||
| ENST00000509128.5:c.310T>A | ||
| NM_015662.2:c.3915T>A | NP_056477.1:p.Ser1305= | |
| XM_005264254.1:c.3849T>A | XP_005264311.1:p.Ser1283= | |
| XM_006711986.2:c.3852T>A | XP_006712049.1:p.Ser1284= | |
| XM_006711987.1:c.3915T>A | XP_006712050.1:p.Ser1305= | |
| XM_011532757.1:c.3234T>A | XP_011531059.1:p.Ser1078= | |
| XM_011532758.1:c.3915T>A | XP_011531060.1:p.Ser1305= | |
| XM_011532759.1:c.2355T>A | XP_011531061.1:p.Ser785= | |
| XM_011532760.1:c.1980T>A | XP_011531062.1:p.Ser660= | |
| XM_006711986.3:c.3852T>A | XP_006712049.1:p.Ser1284= | |
| XM_011532757.2:c.3234T>A | XP_011531059.1:p.Ser1078= | |
| XM_011532759.2:c.2355T>A | XP_011531061.1:p.Ser785= | |
| XM_011532760.2:c.1980T>A | XP_011531062.1:p.Ser660= | |
| XM_017003790.1:c.3786T>A | XP_016859279.1:p.Ser1262= | |
| XM_017003791.1:c.3234T>A | XP_016859280.1:p.Ser1078= | |
| XM_017003792.1:c.3805T>A | XP_016859281.1:p.Trp1269Arg | |
| XM_017003793.1:c.2052T>A | XP_016859282.1:p.Ser684= | |
| XM_017003794.1:c.2052T>A | XP_016859283.1:p.Ser684= | |
| XM_017003795.1:c.1848T>A | XP_016859284.1:p.Ser616= | |
| XR_001738698.1:n.3860T>A | ||
| NM_015662.3:c.3915T>A MANE Select | NP_056477.1:p.Ser1305= |