Linked Data
dbSNP Id:
rs780644845
ExAC:
17:39768647 C / A
gnomAD v2:
17-39768647-C-A
gnomAD v4:
17-41612395-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612395C>A , CM000679.2:g.41612395C>A | GRCh38 |
| NC_000017.10:g.39768647C>A , CM000679.1:g.39768647C>A | GRCh37 |
| NC_000017.9:g.37022173C>A | NCBI36 |
| NG_008301.1:g.5433G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.294G>T MANE Select | ENSP00000301653.3:p.Leu98Phe | |
| ENST00000301653.8:c.294G>T | ENSP00000301653.3:p.Leu98Phe | |
| ENST00000588319.1:n.371G>T | ||
| ENST00000593067.1:c.-312-109G>T | ENSP00000467124.1:n.-312-109G>T | |
| NM_005557.3:c.294G>T | NP_005548.2:p.Leu98Phe | |
| NM_005557.4:c.294G>T MANE Select | NP_005548.2:p.Leu98Phe |