Linked Data
ClinVar Variation Id:
30848
ClinVar RCV Id:
RCV000023833
dbSNP Id:
rs387907029
ExAC:
8:104384015 A / C
gnomAD v2:
8-104384015-A-C
gnomAD v3:
8-103371787-A-C
gnomAD v4:
8-103371787-A-C
COSMIC:
COSM4637527
PubMed:
PMID:21791690
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.103371787A>C , CM000670.2:g.103371787A>C | GRCh38 |
| NC_000008.10:g.104384015A>C , CM000670.1:g.104384015A>C | GRCh37 |
| NC_000008.9:g.104453191A>C | NCBI36 |
| NG_031985.1:g.5273A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330295.10:c.131A>C MANE Select | ENSP00000330523.5:p.Gln44Pro | |
| ENST00000330295.9:c.131A>C | ENSP00000330523.5:p.Gln44Pro | |
| ENST00000415886.2:c.131A>C | ENSP00000416045.2:p.Gln44Pro | |
| NM_138455.3:c.131A>C | NP_612464.1:p.Gln44Pro | |
| XM_011516824.1:c.131A>C | XP_011515126.1:p.Gln44Pro | |
| XM_011516824.2:c.131A>C | XP_011515126.1:p.Gln44Pro | |
| NM_138455.4:c.131A>C MANE Select | NP_612464.1:p.Gln44Pro |