Linked Data
ClinVar Variation Id:
421810
dbSNP Id:
rs781167993
ExAC:
9:97934426 C / T
gnomAD v2:
9-97934426-C-T
gnomAD v3:
9-95172144-C-T
gnomAD v4:
9-95172144-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95172144C>T , CM000671.2:g.95172144C>T | GRCh38 |
| NC_000009.11:g.97934426C>T , CM000671.1:g.97934426C>T | GRCh37 |
| NC_000009.10:g.96974247C>T | NCBI36 |
| NG_011707.1:g.150566G>A , LRG_497:g.150566G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696261.1:n.740G>A | ||
| ENST00000289081.8:c.349G>A MANE Select | ENSP00000289081.3:p.Val117Ile | |
| ENST00000375305.6:c.349G>A | ENSP00000364454.1:p.Val117Ile | |
| ENST00000490972.7:c.349G>A | ENSP00000479931.1:p.Val117Ile | |
| ENST00000636777.1:n.407G>A | ||
| ENST00000647778.1:c.349G>A | ENSP00000498125.1:p.Val117Ile | |
| ENST00000647882.1:c.349G>A | ENSP00000497025.1:p.Val117Ile | |
| ENST00000649334.1:c.494G>A | ENSP00000497735.1:n.494G>A | |
| ENST00000649701.1:n.64G>A | ||
| ENST00000289081.7:c.349G>A | ENSP00000289081.3:p.Val117Ile | |
| ENST00000375305.5:c.349G>A | ENSP00000364454.1:p.Val117Ile | |
| ENST00000433829.1:c.349G>A | ENSP00000406908.1:p.Val117Ile | |
| ENST00000474949.1:n.706G>A | ||
| ENST00000490972.6:c.349G>A | ENSP00000479931.1:p.Val117Ile | |
| NM_000136.2:c.349G>A , LRG_497t1:c.349G>A | NP_000127.2:p.Val117Ile | |
| NM_001243743.1:c.349G>A | NP_001230672.1:p.Val117Ile | |
| NM_001243744.1:c.349G>A | NP_001230673.1:p.Val117Ile | |
| XM_006717001.1:c.349G>A | XP_006717064.1:p.Val117Ile | |
| XM_006717002.2:c.349G>A | XP_006717065.1:p.Val117Ile | |
| XM_006717004.2:c.349G>A | XP_006717067.1:p.Val117Ile | |
| XM_011518365.1:c.349G>A | XP_011516667.1:p.Val117Ile | |
| XM_011518366.1:c.349G>A | XP_011516668.1:p.Val117Ile | |
| XM_011518367.1:c.-108G>A | XP_011516669.1:n.-108G>A | |
| XM_006717001.3:c.349G>A | XP_006717064.1:p.Val117Ile | |
| XM_006717002.4:c.349G>A | XP_006717065.1:p.Val117Ile | |
| XM_006717004.4:c.349G>A | XP_006717067.1:p.Val117Ile | |
| XM_011518365.3:c.349G>A | XP_011516667.1:p.Val117Ile | |
| XM_011518366.3:c.349G>A | XP_011516668.1:p.Val117Ile | |
| XM_011518367.2:c.-108G>A | XP_011516669.1:n.-108G>A | |
| XM_017014452.2:c.-108G>A | XP_016869941.1:n.-108G>A | |
| XM_017014453.1:c.-108G>A | XP_016869942.1:n.-108G>A | |
| XM_017014454.1:c.-108G>A | XP_016869943.1:n.-108G>A | |
| XM_024447451.1:c.349G>A | XP_024303219.1:p.Val117Ile | |
| NM_000136.3:c.349G>A MANE Select | NP_000127.2:p.Val117Ile | |
| NM_001243743.2:c.349G>A | NP_001230672.1:p.Val117Ile | |
| NM_001243744.2:c.349G>A | NP_001230673.1:p.Val117Ile |