Linked Data
ClinVar Variation Id:
46569
ClinVar RCV Id:
RCV000039839
RCV000266541
RCV000306396
RCV000321415
RCV000393056
RCV001511180
RCV001582531
RCV001582532
dbSNP Id:
rs9277934
ExAC:
6:33153528 C / T
gnomAD v2:
6-33153528-C-T
gnomAD v3:
6-33185751-C-T
gnomAD v4:
6-33185751-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33185751C>T , CM000668.2:g.33185751C>T | GRCh38 |
| NC_000006.11:g.33153528C>T , CM000668.1:g.33153528C>T | GRCh37 |
| NC_000006.10:g.33261506C>T | NCBI36 |
| NG_011589.1:g.11718G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682718.1:n.643G>A | ||
| ENST00000341947.7:c.826G>A MANE Select | ENSP00000339915.2:p.Glu276Lys | |
| ENST00000341947.6:c.826G>A | ENSP00000339915.2:p.Glu276Lys | |
| ENST00000361917.5:c.798+876G>A | ENSP00000355123.1:n.798+876G>A | |
| ENST00000374708.8:c.799-697G>A | ENSP00000363840.4:n.799-697G>A | |
| ENST00000457788.5:c.826G>A | ENSP00000405520.1:p.Glu276Lys | |
| NM_080679.2:c.798+876G>A | NP_542410.2:n.798+876G>A | |
| NM_080680.2:c.826G>A | NP_542411.2:p.Glu276Lys | |
| NM_080681.2:c.799-697G>A | NP_542412.2:n.799-697G>A | |
| XM_011514298.1:c.-21G>A | XP_011512600.1:n.-21G>A | |
| XM_017010250.1:c.826G>A | XP_016865739.1:p.Glu276Lys | |
| NM_080680.3:c.826G>A MANE Select | NP_542411.2:p.Glu276Lys | |
| NM_080681.3:c.799-697G>A | NP_542412.2:n.799-697G>A | |
| NM_080679.3:c.798+876G>A | NP_542410.2:n.798+876G>A |