Linked Data
ClinVar Variation Id:
64484
ClinVar RCV Id:
RCV000054671
dbSNP Id:
rs387907475
gnomAD v4:
17-28495672-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28495672G>A , CM000679.2:g.28495672G>A | GRCh38 |
| NC_000017.10:g.26822690G>A , CM000679.1:g.26822690G>A | GRCh37 |
| NC_000017.9:g.23846817G>A | NCBI36 |
| NG_051960.1:g.27027G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314669.10:c.1326G>A MANE Select | ENSP00000316202.6:p.Glu442= | |
| ENST00000314669.9:c.1326G>A | ENSP00000316202.5:p.Glu442= | |
| ENST00000444914.7:c.1473G>A | ENSP00000392411.3:p.Glu491= | |
| ENST00000459818.2:c.1504G>A | ||
| ENST00000481916.6:c.*1196-39563C>T | ENSP00000436369.2:n.*1196-39563C>T | |
| ENST00000577903.5:c.*1586G>A | ENSP00000463457.1:n.*1586G>A | |
| ENST00000579281.5:c.1442G>A | ||
| NM_001145975.1:c.1473G>A | NP_001139447.1:p.Glu491= | |
| NM_003984.3:c.1326G>A | NP_003975.1:p.Glu442= | |
| NR_027384.1:n.1534G>A | ||
| XM_006722165.2:c.1197G>A | XP_006722228.1:p.Glu399= | |
| XM_011525450.1:c.1476G>A | XP_011523752.1:p.Glu492= | |
| XM_011525451.1:c.1344G>A | XP_011523753.1:p.Glu448= | |
| XM_011525452.1:c.1329G>A | XP_011523754.1:p.Glu443= | |
| XM_011525453.1:c.1257G>A | XP_011523755.1:p.Glu419= | |
| NM_001346683.1:c.1194G>A | NP_001333612.1:p.Glu398= | |
| NM_001346684.1:c.1113G>A | NP_001333613.1:p.Glu371= | |
| XM_011525450.3:c.1476G>A | XP_011523752.1:p.Glu492= | |
| XM_011525453.2:c.1257G>A | XP_011523755.1:p.Glu419= | |
| NM_001145975.2:c.1473G>A | NP_001139447.1:p.Glu491= | |
| NM_001346683.2:c.1194G>A | NP_001333612.1:p.Glu398= | |
| NM_001346684.2:c.1113G>A | NP_001333613.1:p.Glu371= | |
| NM_003984.4:c.1326G>A MANE Select | NP_003975.1:p.Glu442= |