Linked Data
ClinVar Variation Id:
579128
ClinVar RCV Id:
RCV000702336
dbSNP Id:
rs1250676888
gnomAD v2:
2-27702991-G-A
gnomAD v4:
2-27480124-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27480124G>A , CM000664.2:g.27480124G>A | GRCh38 |
| NC_000002.11:g.27702991G>A , CM000664.1:g.27702991G>A | GRCh37 |
| NC_000002.10:g.27556495G>A | NCBI36 |
| NG_034068.1:g.14688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.811C>T MANE Select | ENSP00000260570.3:p.Arg271Ter | |
| ENST00000476264.7:n.1100C>T | ||
| ENST00000674701.1:c.811C>T | ENSP00000502275.1:p.Arg271Ter | |
| ENST00000674824.1:c.748C>T | ENSP00000501824.1:p.Arg250Ter | |
| ENST00000674932.1:c.*474C>T | ENSP00000501967.1:n.*474C>T | |
| ENST00000675410.1:c.130C>T | ENSP00000502030.1:p.Arg44Ter | |
| ENST00000675618.1:n.891C>T | ||
| ENST00000675690.1:c.811C>T | ENSP00000502283.1:p.Arg271Ter | |
| ENST00000675728.1:c.748C>T | ENSP00000501700.1:p.Arg250Ter | |
| ENST00000675729.1:c.811C>T | ENSP00000502319.1:p.Arg271Ter | |
| ENST00000675963.1:c.*509C>T | ENSP00000502708.1:n.*509C>T | |
| ENST00000676119.1:c.*101C>T | ENSP00000501701.1:n.*101C>T | |
| ENST00000676300.1:n.897C>T | ||
| ENST00000260570.7:c.811C>T | ENSP00000260570.3:p.Arg271Ter | |
| ENST00000359466.10:c.811C>T | ENSP00000352443.6:p.Arg271Ter | |
| ENST00000416524.2:c.748C>T | ENSP00000407408.2:p.Arg250Ter | |
| ENST00000476264.6:n.757C>T | ||
| ENST00000507184.5:n.943C>T | ||
| ENST00000511842.5:n.836C>T | ||
| NM_015662.2:c.811C>T | NP_056477.1:p.Arg271Ter | |
| XM_005264254.1:c.811C>T | XP_005264311.1:p.Arg271Ter | |
| XM_006711986.2:c.748C>T | XP_006712049.1:p.Arg250Ter | |
| XM_006711987.1:c.811C>T | XP_006712050.1:p.Arg271Ter | |
| XM_011532757.1:c.130C>T | XP_011531059.1:p.Arg44Ter | |
| XM_011532758.1:c.811C>T | XP_011531060.1:p.Arg271Ter | |
| XM_006711986.3:c.748C>T | XP_006712049.1:p.Arg250Ter | |
| XM_011532757.2:c.130C>T | XP_011531059.1:p.Arg44Ter | |
| XM_017003790.1:c.748C>T | XP_016859279.1:p.Arg250Ter | |
| XM_017003791.1:c.130C>T | XP_016859280.1:p.Arg44Ter | |
| XM_017003792.1:c.811C>T | XP_016859281.1:p.Arg271Ter | |
| XM_017003793.1:c.-640C>T | XP_016859282.1:n.-640C>T | |
| XM_017003794.1:c.-640C>T | XP_016859283.1:n.-640C>T | |
| XM_017003795.1:c.-1012C>T | XP_016859284.1:n.-1012C>T | |
| XR_001738698.1:n.866C>T | ||
| NM_015662.3:c.811C>T MANE Select | NP_056477.1:p.Arg271Ter |