Linked Data
ClinVar Variation Id:
389281
ClinVar RCV Id:
RCV000434595
dbSNP Id:
rs768046807
gnomAD v4:
11-124921192-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124921192G>A , CM000673.2:g.124921192G>A | GRCh38 |
| NC_000011.9:g.124791088G>A , CM000673.1:g.124791088G>A | GRCh37 |
| NC_000011.8:g.124296298G>A | NCBI36 |
| NG_029603.1:g.20221C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703807.1:c.1353C>T | ENSP00000515485.1:p.Gly451= | |
| ENST00000298251.5:c.1197C>T MANE Select | ENSP00000298251.4:p.Gly399= | |
| ENST00000298251.4:c.1197C>T | ENSP00000298251.4:p.Gly399= | |
| NM_152722.4:c.1197C>T | NP_689935.2:p.Gly399= | |
| XM_005271449.1:c.1194C>T | XP_005271506.1:p.Gly398= | |
| XM_006718786.1:c.1218C>T | XP_006718849.1:p.Gly406= | |
| XM_011542669.1:c.1215C>T | XP_011540971.1:p.Gly405= | |
| XM_005271449.2:c.1194C>T | XP_005271506.1:p.Gly398= | |
| XM_017017361.1:c.1353C>T | XP_016872850.1:p.Gly451= | |
| XR_001748429.2:n.325-22208G>A | ||
| NM_152722.5:c.1197C>T MANE Select | NP_689935.2:p.Gly399= |