Linked Data
ClinVar Variation Id:
39809
ClinVar RCV Id:
RCV000033030
dbSNP Id:
rs397514603
gnomAD v4:
X-85879054-T-C
PubMed:
PMID:21905166
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85879054T>C , CM000685.2:g.85879054T>C | GRCh38 |
| NC_000023.10:g.85134059T>C , CM000685.1:g.85134059T>C | GRCh37 |
| NC_000023.9:g.85020715T>C | NCBI36 |
| NG_009874.2:g.173509A>G , LRG_699:g.173509A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357749.7:c.1520A>G MANE Select | ENSP00000350386.2:p.His507Arg | |
| ENST00000357749.6:c.1520A>G | ENSP00000350386.2:p.His507Arg | |
| ENST00000467744.2:n.127-15960A>G | ||
| NM_000390.2:c.1520A>G , LRG_699t1:c.1520A>G | NP_000381.1:p.His507Arg | |
| XM_006724615.2:c.1457A>G | XP_006724678.1:p.His486Arg | |
| XM_011530839.1:c.1076A>G | XP_011529141.1:p.His359Arg | |
| NM_000390.3:c.1520A>G | NP_000381.1:p.His507Arg | |
| NM_001320959.1:c.1076A>G | NP_001307888.1:p.His359Arg | |
| NM_001362517.1:c.1076A>G | NP_001349446.1:p.His359Arg | |
| NM_001362518.1:c.1076A>G | NP_001349447.1:p.His359Arg | |
| NM_001362519.1:c.1076A>G | NP_001349448.1:p.His359Arg | |
| XM_017029242.2:c.1520A>G | XP_016884731.1:p.His507Arg | |
| XM_017029246.1:c.1076A>G | XP_016884735.1:p.His359Arg | |
| XM_024452331.1:c.1076A>G | XP_024308099.1:p.His359Arg | |
| NM_000390.4:c.1520A>G MANE Select | NP_000381.1:p.His507Arg | |
| NM_001362518.2:c.1076A>G | NP_001349447.1:p.His359Arg |