Linked Data
ClinVar Variation Id:
39448
ClinVar RCV Id:
RCV000032643
dbSNP Id:
rs397514504
PubMed:
PMID:22825317
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133733963C>A , CM000671.2:g.133733963C>A | GRCh38 |
| NC_000009.11:g.136599085C>A , CM000671.1:g.136599085C>A | GRCh37 |
| NC_000009.10:g.135588906C>A | NCBI36 |
| NG_008987.1:g.10993G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439388.6:c.211G>T MANE Select | ENSP00000403084.1:p.Val71Phe | |
| ENST00000298628.6:c.211G>T | ENSP00000298628.5:p.Val71Phe | |
| ENST00000371867.5:c.-57G>T | ENSP00000360933.1:n.-57G>T | |
| ENST00000371872.8:c.211G>T | ENSP00000360938.4:p.Val71Phe | |
| ENST00000427237.6:c.211G>T | ENSP00000394210.2:p.Val71Phe | |
| ENST00000439388.5:c.211G>T | ENSP00000403084.1:p.Val71Phe | |
| ENST00000616662.4:c.211G>T | ENSP00000484683.1:p.Val71Phe | |
| NM_001134707.1:c.211G>T | NP_001128179.1:p.Val71Phe | |
| NM_007101.3:c.211G>T | NP_009032.2:p.Val71Phe | |
| XM_006716990.2:c.211G>T | XP_006717053.1:p.Val71Phe | |
| XM_011518333.1:c.211G>T | XP_011516635.1:p.Val71Phe | |
| XR_929726.1:n.378G>T | ||
| XR_929727.1:n.378G>T | ||
| XR_929728.1:n.378G>T | ||
| XM_017014367.1:c.211G>T | XP_016869856.1:p.Val71Phe | |
| XM_017014368.1:c.211G>T | XP_016869857.1:p.Val71Phe | |
| XR_001746213.1:n.507G>T | ||
| XR_001746214.1:n.1690G>T | ||
| XR_001746215.1:n.509G>T | ||
| XR_001746216.1:n.507G>T | ||
| XR_001746217.1:n.507G>T | ||
| XR_001746218.1:n.507G>T | ||
| XR_929726.2:n.378G>T | ||
| NM_001134707.2:c.211G>T MANE Select | NP_001128179.1:p.Val71Phe | |
| NM_007101.4:c.211G>T | NP_009032.2:p.Val71Phe |