Linked Data
dbSNP Id:
rs1590428524
gnomAD v3:
10-49493133-G-A
gnomAD v4:
10-49493133-G-A
COSMIC:
COSM5915933
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493133G>A , CM000672.2:g.49493133G>A | GRCh38 |
| NC_000010.10:g.50701179G>A , CM000672.1:g.50701179G>A | GRCh37 |
| NC_000010.9:g.50371185G>A | NCBI36 |
| NG_009442.1:g.50969C>T , LRG_465:g.50969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1805C>T MANE Select | ENSP00000348089.5:p.Ser602Phe | |
| ENST00000681632.1:n.1883C>T | ||
| ENST00000681659.1:c.1646C>T | ENSP00000505631.1:p.Ser549Phe | |
| ENST00000355832.9:c.1805C>T | ENSP00000348089.5:p.Ser602Phe | |
| ENST00000475116.1:n.275+7405C>T | ||
| ENST00000623073.3:c.206C>T | ENSP00000485650.1:p.Ser69Phe | |
| ENST00000623115.3:c.-70+7405C>T | ENSP00000485321.1:n.-70+7405C>T | |
| ENST00000623318.1:c.206C>T | ENSP00000485423.1:p.Ser69Phe | |
| NM_000124.3:c.1805C>T | NP_000115.1:p.Ser602Phe | |
| NM_001346440.1:c.1805C>T | NP_001333369.1:p.Ser602Phe | |
| NM_000124.4:c.1805C>T MANE Select | NP_000115.1:p.Ser602Phe | |
| NM_001346440.2:c.1805C>T | NP_001333369.1:p.Ser602Phe |