Linked Data
dbSNP Id:
rs535259402
ExAC:
8:6735364 G / A
gnomAD v2:
8-6735364-G-A
gnomAD v3:
8-6877842-G-A
gnomAD v4:
8-6877842-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6877842G>A , CM000670.2:g.6877842G>A | GRCh38 |
| NC_000008.10:g.6735364G>A , CM000670.1:g.6735364G>A | GRCh37 |
| NC_000008.9:g.6722774G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297439.4:c.16C>T MANE Select | ENSP00000297439.3:p.Leu6Phe | |
| ENST00000297439.3:c.16C>T | ENSP00000297439.3:p.Leu6Phe | |
| NM_005218.3:c.16C>T | NP_005209.1:p.Leu6Phe | |
| NM_005218.4:c.16C>T MANE Select | NP_005209.1:p.Leu6Phe |