Linked Data
ClinVar Variation Id:
493456
ClinVar RCV Id:
RCV000584993
RCV000591691
RCV000660395
RCV001083497
RCV001578749
RCV001391319
RCV003925755
dbSNP Id:
rs144942544
ExAC:
7:92140266 T / C
gnomAD v2:
7-92140266-T-C
gnomAD v3:
7-92510952-T-C
gnomAD v4:
7-92510952-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92510952T>C , CM000669.2:g.92510952T>C | GRCh38 |
| NC_000007.13:g.92140266T>C , CM000669.1:g.92140266T>C | GRCh37 |
| NC_000007.12:g.91978202T>C | NCBI36 |
| NG_008341.1:g.22580A>G | |
| NG_008341.2:g.22580A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1579A>G MANE Select | ENSP00000248633.4:p.Thr527Ala | |
| ENST00000248633.8:c.1579A>G | ENSP00000248633.4:p.Thr527Ala | |
| ENST00000422866.1:c.480A>G | ||
| ENST00000428214.5:c.1579A>G | ENSP00000394413.1:p.Thr527Ala | |
| ENST00000438045.5:c.613A>G | ENSP00000410438.1:p.Thr205Ala | |
| ENST00000476923.1:n.340A>G | ||
| ENST00000484913.5:n.1618A>G | ||
| NM_000466.2:c.1579A>G | NP_000457.1:p.Thr527Ala | |
| NM_001282677.1:c.1579A>G | NP_001269606.1:p.Thr527Ala | |
| NM_001282678.1:c.955A>G | NP_001269607.1:p.Thr319Ala | |
| XM_005250433.3:c.-88A>G | XP_005250490.1:n.-88A>G | |
| XR_242246.3:n.1675A>G | ||
| XM_017012319.2:c.-88A>G | XP_016867808.1:n.-88A>G | |
| XR_001744808.2:n.689A>G | ||
| XR_242246.5:n.1626A>G | ||
| NM_000466.3:c.1579A>G MANE Select | NP_000457.1:p.Thr527Ala | |
| NM_001282677.2:c.1579A>G | NP_001269606.1:p.Thr527Ala | |
| NM_001282678.2:c.955A>G | NP_001269607.1:p.Thr319Ala |