Linked Data
ClinVar Variation Id:
97336
ClinVar RCV Id:
RCV000083583
dbSNP Id:
rs1800328
PubMed:
PMID:16786505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408967A>C , CM000685.2:g.38408967A>C | GRCh38 |
| NC_000023.10:g.38268220A>C , CM000685.1:g.38268220A>C | GRCh37 |
| NC_000023.9:g.38153164A>C | NCBI36 |
| NG_008471.1:g.61485A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.809A>C MANE Select | ENSP00000039007.4:p.Gln270Pro | |
| ENST00000643344.1:c.*559A>C | ENSP00000496606.1:n.*559A>C | |
| ENST00000039007.4:c.809A>C | ENSP00000039007.4:p.Gln270Pro | |
| ENST00000465127.1:c.172-257154A>C | ENSP00000417050.1:n.172-257154A>C | |
| NM_000531.5:c.809A>C | NP_000522.3:p.Gln270Pro | |
| XM_017029556.1:c.809A>C | XP_016885045.1:p.Gln270Pro | |
| NM_000531.6:c.809A>C MANE Select | NP_000522.3:p.Gln270Pro |