Linked Data
ClinVar Variation Id:
1738635
ClinVar RCV Id:
RCV002327846
dbSNP Id:
rs1695063152
gnomAD v4:
3-14129440-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14129440A>G , CM000665.2:g.14129440A>G | GRCh38 |
| NC_000003.11:g.14170940A>G , CM000665.1:g.14170940A>G | GRCh37 |
| NC_000003.10:g.14145941A>G | NCBI36 |
| NG_008975.1:g.9501A>G , LRG_435:g.9501A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*71A>G | ENSP00000395617.1:n.*71A>G | |
| ENST00000306077.5:c.41A>G MANE Select | ENSP00000303992.5:p.His14Arg | |
| ENST00000306077.4:c.41A>G | ENSP00000303992.4:p.His14Arg | |
| ENST00000432444.1:c.*71A>G | ENSP00000395617.1:n.*71A>G | |
| NM_024334.2:c.41A>G , LRG_435t1:c.41A>G | NP_077310.1:p.His14Arg | |
| XM_011534109.1:c.-65A>G | XP_011532411.1:n.-65A>G | |
| XM_017007176.2:c.-65A>G | XP_016862665.1:n.-65A>G | |
| NM_024334.3:c.41A>G MANE Select | NP_077310.1:p.His14Arg |