Linked Data
ClinVar Variation Id:
187700
ClinVar RCV Id:
RCV002228995
dbSNP Id:
rs786203932
PubMed:
PMID:15989954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094902G>A , CM000673.2:g.112094902G>A | GRCh38 |
| NC_000011.9:g.111965626G>A , CM000673.1:g.111965626G>A | GRCh37 |
| NC_000011.8:g.111470836G>A | NCBI36 |
| NG_012337.2:g.13056G>A | |
| NG_012337.3:g.13056G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530923.6:c.*151G>A | ENSP00000432946.2:n.*151G>A | |
| ENST00000534010.2:c.314+5891G>A | ENSP00000433202.2:n.314+5891G>A | |
| ENST00000375549.8:c.412G>A MANE Select | ENSP00000364699.3:p.Gly138Arg | |
| ENST00000528021.6:c.314+5891G>A | ENSP00000432465.1:n.314+5891G>A | |
| ENST00000375549.7:c.412G>A | ENSP00000364699.3:p.Gly138Arg | |
| ENST00000525291.5:c.295G>A | ENSP00000436669.1:p.Gly99Arg | |
| ENST00000525987.5:n.319+5891G>A | ||
| ENST00000526592.5:c.*110G>A | ENSP00000432005.1:n.*110G>A | |
| ENST00000528021.5:c.314+5891G>A | ENSP00000432465.1:n.314+5891G>A | |
| ENST00000528048.5:c.*9G>A | ENSP00000436217.1:n.*9G>A | |
| ENST00000528182.5:c.*9G>A | ENSP00000435475.1:n.*9G>A | |
| ENST00000530923.5:c.456G>A | ||
| ENST00000531744.5:c.314+5891G>A | ENSP00000456957.1:n.314+5891G>A | |
| ENST00000532699.1:c.314+5891G>A | ENSP00000456434.1:n.314+5891G>A | |
| ENST00000534010.1:c.145+5891G>A | ||
| NM_001276503.1:c.*9G>A | NP_001263432.1:n.*9G>A | |
| NM_001276504.1:c.295G>A | NP_001263433.1:p.Gly99Arg | |
| NM_001276506.1:c.*110G>A | NP_001263435.1:n.*110G>A | |
| NM_003002.3:c.412G>A | NP_002993.1:p.Gly138Arg | |
| NR_077060.1:n.550G>A | ||
| NM_003002.4:c.412G>A MANE Select | NP_002993.1:p.Gly138Arg | |
| NM_001276503.2:c.*9G>A | NP_001263432.1:n.*9G>A | |
| NM_001276504.2:c.295G>A | NP_001263433.1:p.Gly99Arg | |
| NM_001276506.2:c.*110G>A | NP_001263435.1:n.*110G>A | |
| NR_077060.2:n.501G>A |