Linked Data
ClinVar Variation Id:
66344
ClinVar RCV Id:
RCV000056712
dbSNP Id:
rs59110575
gnomAD v4:
17-41586471-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586471G>A , CM000679.2:g.41586471G>A | GRCh38 |
| NC_000017.10:g.39742723G>A , CM000679.1:g.39742723G>A | GRCh37 |
| NC_000017.9:g.36996249G>A | NCBI36 |
| NG_008624.1:g.5425C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.364C>T MANE Select | ENSP00000167586.6:p.Leu122Phe | |
| ENST00000167586.6:c.364C>T | ENSP00000167586.6:p.Leu122Phe | |
| NM_000526.4:c.364C>T | NP_000517.2:p.Leu122Phe | |
| NM_000526.5:c.364C>T MANE Select | NP_000517.3:p.Leu122Phe |