Linked Data
ClinVar Variation Id:
499796
ClinVar RCV Id:
RCV000593144
dbSNP Id:
rs140033860
ExAC:
17:40726174 C / T
gnomAD v2:
17-40726174-C-T
gnomAD v3:
17-42574156-C-T
gnomAD v4:
17-42574156-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42574156C>T , CM000679.2:g.42574156C>T | GRCh38 |
| NC_000017.10:g.40726174C>T , CM000679.1:g.40726174C>T | GRCh37 |
| NC_000017.9:g.37979700C>T | NCBI36 |
| NG_029442.1:g.12097C>T | |
| NG_031960.1:g.8676G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393795.8:c.280G>A MANE Select | ENSP00000377384.2:p.Val94Met | |
| ENST00000253789.9:c.280G>A | ENSP00000253789.4:p.Val94Met | |
| ENST00000393795.7:c.280G>A | ENSP00000377384.2:p.Val94Met | |
| ENST00000586337.5:c.*44G>A | ENSP00000466031.1:n.*44G>A | |
| ENST00000587209.5:c.91G>A | ENSP00000468188.1:p.Val31Met | |
| ENST00000588544.5:c.*155G>A | ENSP00000465409.1:n.*155G>A | |
| ENST00000589505.5:n.389G>A | ||
| ENST00000590760.5:c.-39+40G>A | ENSP00000466381.1:n.-39+40G>A | |
| ENST00000590931.1:c.280G>A | ENSP00000467952.1:p.Val94Met | |
| NM_001256014.1:c.91G>A | NP_001242943.1:p.Val31Met | |
| NM_001256015.1:c.43G>A | NP_001242944.1:p.Val15Met | |
| NM_001256016.1:c.43G>A | NP_001242945.1:p.Val15Met | |
| NM_013290.6:c.280G>A | NP_037422.2:p.Val94Met | |
| NM_016556.3:c.280G>A | NP_057640.1:p.Val94Met | |
| NR_045669.1:n.425G>A | ||
| NR_045670.1:n.385+40G>A | ||
| NR_045671.1:n.361+40G>A | ||
| NM_016556.4:c.280G>A MANE Select | NP_057640.1:p.Val94Met | |
| NM_001256014.2:c.91G>A | NP_001242943.1:p.Val31Met | |
| NM_001256015.2:c.43G>A | NP_001242944.1:p.Val15Met | |
| NM_001256016.2:c.43G>A | NP_001242945.1:p.Val15Met | |
| NM_013290.7:c.280G>A | NP_037422.2:p.Val94Met | |
| NR_045671.2:n.374+40G>A |