Linked Data
ClinVar Variation Id:
304472
ClinVar RCV Id:
RCV000287345
dbSNP Id:
rs886048248
gnomAD v4:
11-34970163-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34970163A>G , CM000673.2:g.34970163A>G | GRCh38 |
| NC_000011.9:g.34991710A>G , CM000673.1:g.34991710A>G | GRCh37 |
| NC_000011.8:g.34948286A>G | NCBI36 |
| NG_013368.1:g.59034A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448838.8:c.661A>G | ENSP00000389404.3:p.Ser221Gly | |
| ENST00000227868.9:c.841A>G MANE Select | ENSP00000227868.4:p.Ser281Gly | |
| ENST00000227868.8:c.841A>G | ENSP00000227868.4:p.Ser281Gly | |
| ENST00000430469.6:c.343-14407A>G | ENSP00000415695.2:n.343-14407A>G | |
| ENST00000448838.7:c.796A>G | ENSP00000389404.2:p.Ser266Gly | |
| NM_001135024.1:c.796A>G | NP_001128496.1:p.Ser266Gly | |
| NM_001166158.1:c.343-14407A>G | NP_001159630.1:n.343-14407A>G | |
| NM_003477.2:c.841A>G | NP_003468.2:p.Ser281Gly | |
| XM_011520390.1:c.661A>G | XP_011518692.1:p.Ser221Gly | |
| NM_003477.3:c.841A>G MANE Select | NP_003468.2:p.Ser281Gly | |
| NM_001135024.2:c.661A>G | NP_001128496.2:p.Ser221Gly | |
| NM_001166158.2:c.343-14407A>G | NP_001159630.1:n.343-14407A>G |