Linked Data
ClinVar Variation Id:
239467
ClinVar RCV Id:
RCV002229348
dbSNP Id:
rs878854592
gnomAD v4:
11-112094808-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094808C>A , CM000673.2:g.112094808C>A | GRCh38 |
| NC_000011.9:g.111965532C>A , CM000673.1:g.111965532C>A | GRCh37 |
| NC_000011.8:g.111470742C>A | NCBI36 |
| NG_012337.2:g.12962C>A | |
| NG_012337.3:g.12962C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530923.6:c.*57C>A | ENSP00000432946.2:n.*57C>A | |
| ENST00000534010.2:c.314+5797C>A | ENSP00000433202.2:n.314+5797C>A | |
| ENST00000375549.8:c.318C>A MANE Select | ENSP00000364699.3:p.Gly106= | |
| ENST00000528021.6:c.314+5797C>A | ENSP00000432465.1:n.314+5797C>A | |
| ENST00000375549.7:c.318C>A | ENSP00000364699.3:p.Gly106= | |
| ENST00000525291.5:c.201C>A | ENSP00000436669.1:p.Gly67= | |
| ENST00000525987.5:n.319+5797C>A | ||
| ENST00000526592.5:c.*16C>A | ENSP00000432005.1:n.*16C>A | |
| ENST00000528021.5:c.314+5797C>A | ENSP00000432465.1:n.314+5797C>A | |
| ENST00000528048.5:c.173C>A | ENSP00000436217.1:p.Ala58Asp | |
| ENST00000528182.5:c.311C>A | ENSP00000435475.1:p.Ala104Asp | |
| ENST00000530923.5:c.362C>A | ||
| ENST00000531744.5:c.314+5797C>A | ENSP00000456957.1:n.314+5797C>A | |
| ENST00000532699.1:c.314+5797C>A | ENSP00000456434.1:n.314+5797C>A | |
| ENST00000534010.1:c.145+5797C>A | ||
| NM_001276503.1:c.173C>A | NP_001263432.1:p.Ala58Asp | |
| NM_001276504.1:c.201C>A | NP_001263433.1:p.Gly67= | |
| NM_001276506.1:c.*16C>A | NP_001263435.1:n.*16C>A | |
| NM_003002.3:c.318C>A | NP_002993.1:p.Gly106= | |
| NR_077060.1:n.456C>A | ||
| NM_003002.4:c.318C>A MANE Select | NP_002993.1:p.Gly106= | |
| NM_001276503.2:c.173C>A | NP_001263432.1:p.Ala58Asp | |
| NM_001276504.2:c.201C>A | NP_001263433.1:p.Gly67= | |
| NM_001276506.2:c.*16C>A | NP_001263435.1:n.*16C>A | |
| NR_077060.2:n.407C>A |