Linked Data
ClinVar Variation Id:
39450
ClinVar RCV Id:
RCV000032645
dbSNP Id:
rs149391396
gnomAD v2:
9-136536816-G-A
gnomAD v3:
9-133671694-G-A
gnomAD v4:
9-133671694-G-A
PubMed:
PMID:22825317
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133671694G>A , CM000671.2:g.133671694G>A | GRCh38 |
| NC_000009.11:g.136536816G>A , CM000671.1:g.136536816G>A | GRCh37 |
| NC_000009.10:g.135526637G>A | NCBI36 |
| NG_008987.1:g.73262C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439388.6:c.2167C>T MANE Select | ENSP00000403084.1:p.Arg723Ter | |
| ENST00000371868.5:c.451C>T | ENSP00000360934.1:p.Arg151Ter | |
| ENST00000371872.8:c.2167C>T | ENSP00000360938.4:p.Arg723Ter | |
| ENST00000422262.6:c.1327C>T | ENSP00000415537.3:p.Arg443Ter | |
| ENST00000439388.5:c.2167C>T | ENSP00000403084.1:p.Arg723Ter | |
| NM_001134707.1:c.2167C>T | NP_001128179.1:p.Arg723Ter | |
| NM_007101.3:c.2167C>T | NP_009032.2:p.Arg723Ter | |
| XM_006716990.2:c.2167C>T | XP_006717053.1:p.Arg723Ter | |
| XM_011518333.1:c.2167C>T | XP_011516635.1:p.Arg723Ter | |
| XR_929726.1:n.2334C>T | ||
| XR_929727.1:n.2334C>T | ||
| XR_929728.1:n.2334C>T | ||
| XM_017014367.1:c.2167C>T | XP_016869856.1:p.Arg723Ter | |
| XM_017014368.1:c.2167C>T | XP_016869857.1:p.Arg723Ter | |
| XR_001746213.1:n.2463C>T | ||
| XR_001746214.1:n.3646C>T | ||
| XR_001746215.1:n.2465C>T | ||
| XR_001746216.1:n.2463C>T | ||
| XR_001746217.1:n.2463C>T | ||
| XR_001746218.1:n.2315C>T | ||
| XR_002956762.1:n.2419C>T | ||
| XR_929726.2:n.2334C>T | ||
| NM_001134707.2:c.2167C>T MANE Select | NP_001128179.1:p.Arg723Ter | |
| NM_007101.4:c.2167C>T | NP_009032.2:p.Arg723Ter |