Linked Data
ClinVar Variation Id:
792840
ClinVar RCV Id:
RCV000975985
dbSNP Id:
rs756666611
ExAC:
14:91804427 G / A
gnomAD v2:
14-91804427-G-A
gnomAD v3:
14-91338083-G-A
gnomAD v4:
14-91338083-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91338083G>A , CM000676.2:g.91338083G>A | GRCh38 |
| NC_000014.8:g.91804427G>A , CM000676.1:g.91804427G>A | GRCh37 |
| NC_000014.7:g.90874180G>A | NCBI36 |
| NG_033118.1:g.84762C>T | |
| NG_033118.2:g.84762C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.972C>T MANE Select | ENSP00000374507.6:p.Arg324= | |
| ENST00000389857.10:c.972C>T | ENSP00000374507.6:p.Arg324= | |
| ENST00000554051.1:n.449C>T | ||
| NM_001080414.3:c.972C>T | NP_001073883.2:p.Arg324= | |
| XM_005267691.3:c.972C>T | XP_005267748.1:p.Arg324= | |
| XM_011536796.1:c.864C>T | XP_011535098.1:p.Arg288= | |
| XR_429316.2:n.1100C>T | ||
| XR_943459.1:n.1100C>T | ||
| XM_005267691.5:c.972C>T | XP_005267748.1:p.Arg324= | |
| XM_011536796.2:c.864C>T | XP_011535098.1:p.Arg288= | |
| XM_017021335.2:c.972C>T | XP_016876824.1:p.Arg324= | |
| XM_017021337.2:c.972C>T | XP_016876826.1:p.Arg324= | |
| XR_429316.4:n.1098C>T | ||
| NM_001080414.4:c.972C>T MANE Select | NP_001073883.2:p.Arg324= |