Linked Data
ClinVar Variation Id:
3076074
ClinVar RCV Id:
RCV004018392
dbSNP Id:
rs794729106
gnomAD v3:
12-32850766-C-T
gnomAD v4:
12-32850766-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32850766C>T , CM000674.2:g.32850766C>T | GRCh38 |
| NC_000012.11:g.33003700C>T , CM000674.1:g.33003700C>T | GRCh37 |
| NC_000012.10:g.32894967C>T | NCBI36 |
| NG_009000.1:g.51081G>A , LRG_398:g.51081G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.1378G>A | ENSP00000515065.2:p.Gly460Ser | |
| ENST00000700563.2:c.1378G>A | ENSP00000515066.2:p.Gly460Ser | |
| ENST00000700559.1:c.593G>A | ||
| ENST00000700560.1:n.593G>A | ||
| ENST00000700561.1:n.719G>A | ||
| ENST00000700563.1:c.1332G>A | ||
| ENST00000700564.1:n.1382G>A | ||
| ENST00000700565.1:n.1231G>A | ||
| ENST00000070846.11:c.1378G>A | ENSP00000070846.6:p.Asp460Asn | |
| ENST00000340811.9:c.1378G>A MANE Select | ENSP00000342800.5:p.Gly460Ser | |
| ENST00000070846.10:c.1378G>A | ENSP00000070846.6:p.Asp460Asn | |
| ENST00000340811.8:c.1378G>A | ENSP00000342800.4:p.Gly460Ser | |
| ENST00000613243.1:c.1378G>A | ENSP00000478295.1:p.Asp460Asn | |
| NM_001005242.2:c.1378G>A | NP_001005242.2:p.Gly460Ser | |
| NM_004572.3:c.1378G>A , LRG_398t1:c.1378G>A | NP_004563.2:p.Asp460Asn | |
| NM_001005242.3:c.1378G>A MANE Select | NP_001005242.2:p.Gly460Ser | |
| NM_004572.4:c.1378G>A | NP_004563.2:p.Asp460Asn |