Linked Data
ClinVar Variation Id:
502332
ClinVar RCV Id:
RCV000597288
dbSNP Id:
rs748798206
ExAC:
7:92129049 C / T
gnomAD v2:
7-92129049-C-T
gnomAD v4:
7-92499735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92499735C>T , CM000669.2:g.92499735C>T | GRCh38 |
| NC_000007.13:g.92129049C>T , CM000669.1:g.92129049C>T | GRCh37 |
| NC_000007.12:g.91966985C>T | NCBI36 |
| NG_008341.1:g.33797G>A | |
| NG_008341.2:g.33797G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2687G>A MANE Select | ENSP00000248633.4:p.Arg896Gln | |
| ENST00000248633.8:c.2687G>A | ENSP00000248633.4:p.Arg896Gln | |
| ENST00000428214.5:c.2516G>A | ENSP00000394413.1:p.Arg839Gln | |
| ENST00000438045.5:c.1721G>A | ENSP00000410438.1:p.Arg574Gln | |
| ENST00000484913.5:n.2726G>A | ||
| ENST00000496420.5:n.2579G>A | ||
| NM_000466.2:c.2687G>A | NP_000457.1:p.Arg896Gln | |
| NM_001282677.1:c.2516G>A | NP_001269606.1:p.Arg839Gln | |
| NM_001282678.1:c.2063G>A | NP_001269607.1:p.Arg688Gln | |
| XM_005250433.3:c.938G>A | XP_005250490.1:p.Arg313Gln | |
| XR_242246.3:n.2783G>A | ||
| XM_017012319.2:c.938G>A | XP_016867808.1:p.Arg313Gln | |
| XR_001744808.2:n.1714G>A | ||
| XR_242246.5:n.2734G>A | ||
| NM_000466.3:c.2687G>A MANE Select | NP_000457.1:p.Arg896Gln | |
| NM_001282677.2:c.2516G>A | NP_001269606.1:p.Arg839Gln | |
| NM_001282678.2:c.2063G>A | NP_001269607.1:p.Arg688Gln |