Linked Data
ClinVar Variation Id:
1499301
ClinVar RCV Id:
RCV002010569
dbSNP Id:
rs1792100189
gnomAD v4:
7-92504779-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504779T>C , CM000669.2:g.92504779T>C | GRCh38 |
| NC_000007.13:g.92134093T>C , CM000669.1:g.92134093T>C | GRCh37 |
| NC_000007.12:g.91972029T>C | NCBI36 |
| NG_008341.1:g.28753A>G | |
| NG_008341.2:g.28753A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2024A>G MANE Select | ENSP00000248633.4:p.Glu675Gly | |
| ENST00000248633.8:c.2024A>G | ENSP00000248633.4:p.Glu675Gly | |
| ENST00000428214.5:c.1900+1469A>G | ENSP00000394413.1:n.1900+1469A>G | |
| ENST00000438045.5:c.1058A>G | ENSP00000410438.1:p.Glu353Gly | |
| ENST00000484913.5:n.2063A>G | ||
| ENST00000496420.5:n.1700A>G | ||
| NM_000466.2:c.2024A>G | NP_000457.1:p.Glu675Gly | |
| NM_001282677.1:c.1900+1469A>G | NP_001269606.1:n.1900+1469A>G | |
| NM_001282678.1:c.1400A>G | NP_001269607.1:p.Glu467Gly | |
| XM_005250433.3:c.275A>G | XP_005250490.1:p.Glu92Gly | |
| XR_242246.3:n.2120A>G | ||
| XM_017012319.2:c.275A>G | XP_016867808.1:p.Glu92Gly | |
| XR_001744808.2:n.1051A>G | ||
| XR_242246.5:n.2071A>G | ||
| NM_000466.3:c.2024A>G MANE Select | NP_000457.1:p.Glu675Gly | |
| NM_001282677.2:c.1900+1469A>G | NP_001269606.1:n.1900+1469A>G | |
| NM_001282678.2:c.1400A>G | NP_001269607.1:p.Glu467Gly |