Linked Data
ClinVar Variation Id:
317323
dbSNP Id:
rs767168260
ExAC:
15:89861920 T / A
gnomAD v2:
15-89861920-T-A
gnomAD v3:
15-89318689-T-A
gnomAD v4:
15-89318689-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318689T>A , CM000677.2:g.89318689T>A | GRCh38 |
| NC_000015.9:g.89861920T>A , CM000677.1:g.89861920T>A | GRCh37 |
| NC_000015.8:g.87662924T>A | NCBI36 |
| NG_008218.1:g.21107A>T | |
| NG_011736.1:g.79727T>A , LRG_500:g.79727T>A | |
| NG_008218.2:g.21107A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3334A>T | ENSP00000516154.1:p.Met1112Leu | |
| ENST00000268124.11:c.3334A>T MANE Select | ENSP00000268124.5:p.Met1112Leu | |
| ENST00000530292.3:c.2935A>T | ENSP00000432885.2:p.Met979Leu | |
| ENST00000635986.2:c.*404A>T | ENSP00000490653.2:n.*404A>T | |
| ENST00000636774.1:c.*1901A>T | ENSP00000489799.1:n.*1901A>T | |
| ENST00000637238.1:c.2143A>T | ENSP00000490756.1:n.2143A>T | |
| ENST00000637264.1:c.2406A>T | ||
| ENST00000666746.1:c.2911A>T | ||
| ENST00000672071.1:n.3532A>T | ||
| ENST00000672695.1:n.511A>T | ||
| ENST00000672923.2:n.3334A>T | ||
| ENST00000268124.9:c.3334A>T | ENSP00000268124.5:p.Met1112Leu | |
| ENST00000442287.6:c.3334A>T | ENSP00000399851.2:p.Met1112Leu | |
| ENST00000530292.2:c.418A>T | ENSP00000432885.1:p.Met140Leu | |
| ENST00000631044.2:c.*2758A>T | ENSP00000486730.1:n.*2758A>T | |
| NM_001126131.1:c.3334A>T | NP_001119603.1:p.Met1112Leu | |
| NM_002693.2:c.3334A>T | NP_002684.1:p.Met1112Leu | |
| NM_001126131.2:c.3334A>T | NP_001119603.1:p.Met1112Leu | |
| NM_002693.3:c.3334A>T MANE Select | NP_002684.1:p.Met1112Leu |