Linked Data
ClinVar Variation Id:
990547
ClinVar RCV Id:
RCV001278592
dbSNP Id:
rs1792225580
gnomAD v3:
7-92507043-G-A
gnomAD v4:
7-92507043-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92507043G>A , CM000669.2:g.92507043G>A | GRCh38 |
| NC_000007.13:g.92136357G>A , CM000669.1:g.92136357G>A | GRCh37 |
| NC_000007.12:g.91974293G>A | NCBI36 |
| NG_008341.1:g.26489C>T | |
| NG_008341.2:g.26489C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1754C>T MANE Select | ENSP00000248633.4:p.Ser585Phe | |
| ENST00000248633.8:c.1754C>T | ENSP00000248633.4:p.Ser585Phe | |
| ENST00000422866.1:c.572C>T | ||
| ENST00000428214.5:c.1754C>T | ENSP00000394413.1:p.Ser585Phe | |
| ENST00000438045.5:c.788C>T | ENSP00000410438.1:p.Ser263Phe | |
| ENST00000484913.5:n.1793C>T | ||
| ENST00000496420.5:n.781C>T | ||
| NM_000466.2:c.1754C>T | NP_000457.1:p.Ser585Phe | |
| NM_001282677.1:c.1754C>T | NP_001269606.1:p.Ser585Phe | |
| NM_001282678.1:c.1130C>T | NP_001269607.1:p.Ser377Phe | |
| XM_005250433.3:c.5C>T | XP_005250490.1:p.Ser2Phe | |
| XR_242246.3:n.1850C>T | ||
| XM_017012319.2:c.5C>T | XP_016867808.1:p.Ser2Phe | |
| XR_001744808.2:n.781C>T | ||
| XR_242246.5:n.1801C>T | ||
| NM_000466.3:c.1754C>T MANE Select | NP_000457.1:p.Ser585Phe | |
| NM_001282677.2:c.1754C>T | NP_001269606.1:p.Ser585Phe | |
| NM_001282678.2:c.1130C>T | NP_001269607.1:p.Ser377Phe |