Linked Data
ClinVar Variation Id:
97264
ClinVar RCV Id:
RCV000083506
dbSNP Id:
rs72558405
PubMed:
PMID:16786505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38403672A>G , CM000685.2:g.38403672A>G | GRCh38 |
| NC_000023.10:g.38262925A>G , CM000685.1:g.38262925A>G | GRCh37 |
| NC_000023.9:g.38147869A>G | NCBI36 |
| NG_008471.1:g.56190A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.595A>G MANE Select | ENSP00000039007.4:p.Asn199Asp | |
| ENST00000643344.1:c.*345A>G | ENSP00000496606.1:n.*345A>G | |
| ENST00000039007.4:c.595A>G | ENSP00000039007.4:p.Asn199Asp | |
| ENST00000465127.1:c.172-262449A>G | ENSP00000417050.1:n.172-262449A>G | |
| NM_000531.5:c.595A>G | NP_000522.3:p.Asn199Asp | |
| XM_017029556.1:c.595A>G | XP_016885045.1:p.Asn199Asp | |
| NM_000531.6:c.595A>G MANE Select | NP_000522.3:p.Asn199Asp |