Linked Data
ClinVar Variation Id:
1303847
ClinVar RCV Id:
RCV001758140
dbSNP Id:
rs2116175839
MyVariant Identifiers:
chr7:g.92135563T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92506249T>A , CM000669.2:g.92506249T>A | GRCh38 |
| NC_000007.13:g.92135563T>A , CM000669.1:g.92135563T>A | GRCh37 |
| NC_000007.12:g.91973499T>A | NCBI36 |
| NG_008341.1:g.27283A>T | |
| NG_008341.2:g.27283A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1899A>T MANE Select | ENSP00000248633.4:p.Arg633= | |
| ENST00000248633.8:c.1899A>T | ENSP00000248633.4:p.Arg633= | |
| ENST00000422866.1:c.717A>T | ||
| ENST00000428214.5:c.1899A>T | ENSP00000394413.1:p.Arg633= | |
| ENST00000438045.5:c.933A>T | ENSP00000410438.1:p.Arg311= | |
| ENST00000484913.5:n.1938A>T | ||
| ENST00000496420.5:n.1575A>T | ||
| NM_000466.2:c.1899A>T | NP_000457.1:p.Arg633= | |
| NM_001282677.1:c.1899A>T | NP_001269606.1:p.Arg633= | |
| NM_001282678.1:c.1275A>T | NP_001269607.1:p.Arg425= | |
| XM_005250433.3:c.150A>T | XP_005250490.1:p.Arg50= | |
| XR_242246.3:n.1995A>T | ||
| XM_017012319.2:c.150A>T | XP_016867808.1:p.Arg50= | |
| XR_001744808.2:n.926A>T | ||
| XR_242246.5:n.1946A>T | ||
| NM_000466.3:c.1899A>T MANE Select | NP_000457.1:p.Arg633= | |
| NM_001282677.2:c.1899A>T | NP_001269606.1:p.Arg633= | |
| NM_001282678.2:c.1275A>T | NP_001269607.1:p.Arg425= |