Linked Data
ClinVar Variation Id:
37085
ClinVar RCV Id:
RCV000030732
dbSNP Id:
rs387907278
PubMed:
PMID:22772368
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218437423C>A , CM000663.2:g.218437423C>A | GRCh38 |
| NC_000001.10:g.218610765C>A , CM000663.1:g.218610765C>A | GRCh37 |
| NC_000001.9:g.216677388C>A | NCBI36 |
| NG_027721.1:g.97090C>A | |
| NG_027721.2:g.97090C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366930.9:c.1013C>A MANE Select | ENSP00000355897.4:p.Pro338His | |
| ENST00000366929.4:c.1097C>A | ENSP00000355896.4:p.Pro366His | |
| ENST00000366930.8:c.1013C>A | ENSP00000355897.4:p.Pro338His | |
| ENST00000479322.1:n.497C>A | ||
| NM_001135599.2:c.1097C>A | NP_001129071.1:p.Pro366His | |
| NM_003238.3:c.1013C>A | NP_003229.1:p.Pro338His | |
| NM_001135599.3:c.1097C>A | NP_001129071.1:p.Pro366His | |
| NM_003238.4:c.1013C>A | NP_003229.1:p.Pro338His | |
| NR_138148.1:n.2316C>A | ||
| NR_138149.1:n.2400C>A | ||
| NM_003238.5:c.1013C>A | NP_003229.1:p.Pro338His | |
| NM_003238.6:c.1013C>A MANE Select | NP_003229.1:p.Pro338His | |
| NM_001135599.4:c.1097C>A | NP_001129071.1:p.Pro366His | |
| NR_138148.2:n.2264C>A | ||
| NR_138149.2:n.2348C>A |