Linked Data
ClinVar Variation Id:
791675
dbSNP Id:
rs12941376
ExAC:
17:33903148 A / T
gnomAD v2:
17-33903148-A-T
gnomAD v3:
17-35576129-A-T
gnomAD v4:
17-35576129-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35576129A>T , CM000679.2:g.35576129A>T | GRCh38 |
| NC_000017.10:g.33903148A>T , CM000679.1:g.33903148A>T | GRCh37 |
| NC_000017.9:g.30927261A>T | NCBI36 |
| NG_008447.1:g.7509T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225873.9:c.733T>A MANE Select | ENSP00000225873.3:p.Leu245Ile | |
| ENST00000586663.2:c.733T>A | ENSP00000466894.2:p.Leu245Ile | |
| ENST00000225873.8:c.733T>A | ENSP00000225873.3:p.Leu245Ile | |
| ENST00000586663.1:c.733T>A | ENSP00000466894.1:p.Leu245Ile | |
| ENST00000613219.4:c.733T>A | ENSP00000482609.1:p.Leu245Ile | |
| NM_000286.2:c.733T>A | NP_000277.1:p.Leu245Ile | |
| NM_000286.3:c.733T>A MANE Select | NP_000277.1:p.Leu245Ile |