Linked Data
ClinVar Variation Id:
1121107
ClinVar RCV Id:
RCV001451300
dbSNP Id:
rs2116176396
MyVariant Identifiers:
chr7:g.92135629T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92506315T>C , CM000669.2:g.92506315T>C | GRCh38 |
| NC_000007.13:g.92135629T>C , CM000669.1:g.92135629T>C | GRCh37 |
| NC_000007.12:g.91973565T>C | NCBI36 |
| NG_008341.1:g.27217A>G | |
| NG_008341.2:g.27217A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1833A>G MANE Select | ENSP00000248633.4:p.Ala611= | |
| ENST00000248633.8:c.1833A>G | ENSP00000248633.4:p.Ala611= | |
| ENST00000422866.1:c.651A>G | ||
| ENST00000428214.5:c.1833A>G | ENSP00000394413.1:p.Ala611= | |
| ENST00000438045.5:c.867A>G | ENSP00000410438.1:p.Ala289= | |
| ENST00000484913.5:n.1872A>G | ||
| ENST00000496420.5:n.1509A>G | ||
| NM_000466.2:c.1833A>G | NP_000457.1:p.Ala611= | |
| NM_001282677.1:c.1833A>G | NP_001269606.1:p.Ala611= | |
| NM_001282678.1:c.1209A>G | NP_001269607.1:p.Ala403= | |
| XM_005250433.3:c.84A>G | XP_005250490.1:p.Ala28= | |
| XR_242246.3:n.1929A>G | ||
| XM_017012319.2:c.84A>G | XP_016867808.1:p.Ala28= | |
| XR_001744808.2:n.860A>G | ||
| XR_242246.5:n.1880A>G | ||
| NM_000466.3:c.1833A>G MANE Select | NP_000457.1:p.Ala611= | |
| NM_001282677.2:c.1833A>G | NP_001269606.1:p.Ala611= | |
| NM_001282678.2:c.1209A>G | NP_001269607.1:p.Ala403= |