Linked Data
ClinVar Variation Id:
6918
ClinVar RCV Id:
RCV000007327
dbSNP Id:
rs121908984
ExAC:
11:111965647 C / A
gnomAD v2:
11-111965647-C-A
gnomAD v4:
11-112094923-C-A
PubMed:
PMID:18678321
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094923C>A , CM000673.2:g.112094923C>A | GRCh38 |
| NC_000011.9:g.111965647C>A , CM000673.1:g.111965647C>A | GRCh37 |
| NC_000011.8:g.111470857C>A | NCBI36 |
| NG_012337.2:g.13077C>A | |
| NG_012337.3:g.13077C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530923.6:c.*172C>A | ENSP00000432946.2:n.*172C>A | |
| ENST00000534010.2:c.314+5912C>A | ENSP00000433202.2:n.314+5912C>A | |
| ENST00000375549.8:c.433C>A MANE Select | ENSP00000364699.3:p.His145Asn | |
| ENST00000528021.6:c.314+5912C>A | ENSP00000432465.1:n.314+5912C>A | |
| ENST00000375549.7:c.433C>A | ENSP00000364699.3:p.His145Asn | |
| ENST00000525291.5:c.316C>A | ENSP00000436669.1:p.His106Asn | |
| ENST00000525987.5:n.319+5912C>A | ||
| ENST00000526592.5:c.*131C>A | ENSP00000432005.1:n.*131C>A | |
| ENST00000528021.5:c.314+5912C>A | ENSP00000432465.1:n.314+5912C>A | |
| ENST00000528048.5:c.*30C>A | ENSP00000436217.1:n.*30C>A | |
| ENST00000528182.5:c.*30C>A | ENSP00000435475.1:n.*30C>A | |
| ENST00000530923.5:c.477C>A | ||
| ENST00000531744.5:c.314+5912C>A | ENSP00000456957.1:n.314+5912C>A | |
| ENST00000532699.1:c.314+5912C>A | ENSP00000456434.1:n.314+5912C>A | |
| ENST00000534010.1:c.145+5912C>A | ||
| NM_001276503.1:c.*30C>A | NP_001263432.1:n.*30C>A | |
| NM_001276504.1:c.316C>A | NP_001263433.1:p.His106Asn | |
| NM_001276506.1:c.*131C>A | NP_001263435.1:n.*131C>A | |
| NM_003002.3:c.433C>A | NP_002993.1:p.His145Asn | |
| NR_077060.1:n.571C>A | ||
| NM_003002.4:c.433C>A MANE Select | NP_002993.1:p.His145Asn | |
| NM_001276503.2:c.*30C>A | NP_001263432.1:n.*30C>A | |
| NM_001276504.2:c.316C>A | NP_001263433.1:p.His106Asn | |
| NM_001276506.2:c.*131C>A | NP_001263435.1:n.*131C>A | |
| NR_077060.2:n.522C>A |