Linked Data
ClinVar Variation Id:
259409
dbSNP Id:
rs116942055
ExAC:
10:94397295 A / T
gnomAD v2:
10-94397295-A-T
gnomAD v3:
10-92637538-A-T
gnomAD v4:
10-92637538-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637538A>T , CM000672.2:g.92637538A>T | GRCh38 |
| NC_000010.10:g.94397295A>T , CM000672.1:g.94397295A>T | GRCh37 |
| NC_000010.9:g.94387275A>T | NCBI36 |
| NG_032580.1:g.49471A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2153A>T MANE Select | ENSP00000260731.3:p.His718Leu | |
| ENST00000676621.1:c.*671A>T | ENSP00000503639.1:n.*671A>T | |
| ENST00000676647.1:c.1946A>T | ENSP00000503394.1:p.His649Leu | |
| ENST00000676757.1:c.1946A>T | ENSP00000504289.1:p.His649Leu | |
| ENST00000677720.1:c.*127A>T | ENSP00000504840.1:n.*127A>T | |
| ENST00000260731.4:c.2153A>T | ENSP00000260731.3:p.His718Leu | |
| NM_004523.3:c.2153A>T | NP_004514.2:p.His718Leu | |
| NM_004523.4:c.2153A>T MANE Select | NP_004514.2:p.His718Leu |