Linked Data
ClinVar Variation Id:
1395271
ClinVar RCV Id:
RCV001901135
dbSNP Id:
rs1420998615
gnomAD v2:
8-77895787-G-A
gnomAD v4:
8-76983551-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983551G>A , CM000670.2:g.76983551G>A | GRCh38 |
| NC_000008.10:g.77895787G>A , CM000670.1:g.77895787G>A | GRCh37 |
| NC_000008.9:g.78058342G>A | NCBI36 |
| NG_008371.1:g.21738C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357039.9:c.628C>T MANE Select | ENSP00000349543.4:p.Leu210Phe | |
| ENST00000357039.8:c.628C>T | ENSP00000349543.4:p.Leu210Phe | |
| ENST00000520103.5:c.628C>T | ENSP00000428590.1:p.Leu210Phe | |
| ENST00000522527.5:c.628C>T | ENSP00000428638.1:p.Leu210Phe | |
| NM_000318.2:c.628C>T | NP_000309.1:p.Leu210Phe | |
| NM_001079867.1:c.628C>T | NP_001073336.1:p.Leu210Phe | |
| NM_001172086.1:c.628C>T | NP_001165557.1:p.Leu210Phe | |
| NM_001172087.1:c.628C>T | NP_001165558.1:p.Leu210Phe | |
| NM_000318.3:c.628C>T MANE Select | NP_000309.2:p.Leu210Phe | |
| NM_001079867.2:c.628C>T | NP_001073336.2:p.Leu210Phe | |
| NM_001172086.2:c.628C>T | NP_001165557.2:p.Leu210Phe | |
| NM_001172087.2:c.628C>T | NP_001165558.2:p.Leu210Phe |