Linked Data
ClinVar Variation Id:
650885
dbSNP Id:
rs759643831
ExAC:
9:139393585 C / T
gnomAD v2:
9-139393585-C-T
gnomAD v3:
9-136499133-C-T
gnomAD v4:
9-136499133-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136499133C>T , CM000671.2:g.136499133C>T | GRCh38 |
| NC_000009.11:g.139393585C>T , CM000671.1:g.139393585C>T | GRCh37 |
| NC_000009.10:g.138513406C>T | NCBI36 |
| NG_007458.1:g.51654G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6061G>A MANE Select | ENSP00000498587.1:p.Val2021Ile | |
| ENST00000679595.1:c.*1101G>A | ENSP00000506241.1:n.*1101G>A | |
| ENST00000679969.1:n.2542G>A | ||
| ENST00000680003.1:n.2393G>A | ||
| ENST00000680133.1:c.5947G>A | ENSP00000505319.1:p.Val1983Ile | |
| ENST00000680218.1:c.5941G>A | ENSP00000505339.1:p.Val1981Ile | |
| ENST00000680668.1:c.5947G>A | ENSP00000506336.1:p.Val1983Ile | |
| ENST00000680778.1:c.3658G>A | ENSP00000506033.1:p.Val1220Ile | |
| ENST00000680924.1:c.*3461G>A | ENSP00000506031.1:n.*3461G>A | |
| ENST00000681135.1:c.*3670G>A | ENSP00000506636.1:n.*3670G>A | |
| ENST00000681298.1:n.4166G>A | ||
| ENST00000681454.1:c.*5297G>A | ENSP00000505763.1:n.*5297G>A | |
| ENST00000277541.6:c.6061G>A | ENSP00000277541.6:p.Val2021Ile | |
| NM_017617.3:c.6061G>A | NP_060087.3:p.Val2021Ile | |
| XM_011518717.1:c.5362G>A | XP_011517019.1:p.Val1788Ile | |
| NM_017617.5:c.6061G>A MANE Select | NP_060087.3:p.Val2021Ile | |
| XM_011518717.2:c.5338G>A | XP_011517019.2:p.Val1780Ile |