Linked Data
ClinVar Variation Id:
242579
ClinVar RCV Id:
RCV001854843
dbSNP Id:
rs794729215
gnomAD v4:
16-74774639-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74774639G>T , CM000678.2:g.74774639G>T | GRCh38 |
| NC_000016.9:g.74808537G>T , CM000678.1:g.74808537G>T | GRCh37 |
| NC_000016.8:g.73366038G>T | NCBI36 |
| NG_017070.1:g.5193C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.117C>A MANE Select | ENSP00000219368.3:p.Phe39Leu | |
| ENST00000219368.7:c.117C>A | ENSP00000219368.3:p.Phe39Leu | |
| ENST00000567683.5:c.117C>A | ENSP00000455126.1:p.Phe39Leu | |
| NM_024306.4:c.117C>A | NP_077282.3:p.Phe39Leu | |
| XM_011523317.1:c.117C>A | XP_011521619.1:p.Phe39Leu | |
| XM_011523318.1:c.117C>A | XP_011521620.1:p.Phe39Leu | |
| XM_011523317.3:c.117C>A | XP_011521619.1:p.Phe39Leu | |
| NM_024306.5:c.117C>A MANE Select | NP_077282.3:p.Phe39Leu |