Linked Data
ClinVar Variation Id:
1124012
ClinVar RCV Id:
RCV001455259
dbSNP Id:
rs2116176396
gnomAD v4:
7-92506315-T-G
MyVariant Identifiers:
chr7:g.92135629T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92506315T>G , CM000669.2:g.92506315T>G | GRCh38 |
| NC_000007.13:g.92135629T>G , CM000669.1:g.92135629T>G | GRCh37 |
| NC_000007.12:g.91973565T>G | NCBI36 |
| NG_008341.1:g.27217A>C | |
| NG_008341.2:g.27217A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1833A>C MANE Select | ENSP00000248633.4:p.Ala611= | |
| ENST00000248633.8:c.1833A>C | ENSP00000248633.4:p.Ala611= | |
| ENST00000422866.1:c.651A>C | ||
| ENST00000428214.5:c.1833A>C | ENSP00000394413.1:p.Ala611= | |
| ENST00000438045.5:c.867A>C | ENSP00000410438.1:p.Ala289= | |
| ENST00000484913.5:n.1872A>C | ||
| ENST00000496420.5:n.1509A>C | ||
| NM_000466.2:c.1833A>C | NP_000457.1:p.Ala611= | |
| NM_001282677.1:c.1833A>C | NP_001269606.1:p.Ala611= | |
| NM_001282678.1:c.1209A>C | NP_001269607.1:p.Ala403= | |
| XM_005250433.3:c.84A>C | XP_005250490.1:p.Ala28= | |
| XR_242246.3:n.1929A>C | ||
| XM_017012319.2:c.84A>C | XP_016867808.1:p.Ala28= | |
| XR_001744808.2:n.860A>C | ||
| XR_242246.5:n.1880A>C | ||
| NM_000466.3:c.1833A>C MANE Select | NP_000457.1:p.Ala611= | |
| NM_001282677.2:c.1833A>C | NP_001269606.1:p.Ala611= | |
| NM_001282678.2:c.1209A>C | NP_001269607.1:p.Ala403= |