Linked Data
ClinVar Variation Id:
1139764
dbSNP Id:
rs776758878
ExAC:
7:92131351 A / G
gnomAD v2:
7-92131351-A-G
gnomAD v3:
7-92502037-A-G
gnomAD v4:
7-92502037-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92502037A>G , CM000669.2:g.92502037A>G | GRCh38 |
| NC_000007.13:g.92131351A>G , CM000669.1:g.92131351A>G | GRCh37 |
| NC_000007.12:g.91969287A>G | NCBI36 |
| NG_008341.1:g.31495T>C | |
| NG_008341.2:g.31495T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2269T>C MANE Select | ENSP00000248633.4:p.Leu757= | |
| ENST00000248633.8:c.2269T>C | ENSP00000248633.4:p.Leu757= | |
| ENST00000428214.5:c.2098T>C | ENSP00000394413.1:p.Leu700= | |
| ENST00000438045.5:c.1303T>C | ENSP00000410438.1:p.Leu435= | |
| ENST00000484913.5:n.2308T>C | ||
| ENST00000496092.1:n.67T>C | ||
| ENST00000496420.5:n.1945T>C | ||
| NM_000466.2:c.2269T>C | NP_000457.1:p.Leu757= | |
| NM_001282677.1:c.2098T>C | NP_001269606.1:p.Leu700= | |
| NM_001282678.1:c.1645T>C | NP_001269607.1:p.Leu549= | |
| XM_005250433.3:c.520T>C | XP_005250490.1:p.Leu174= | |
| XR_242246.3:n.2365T>C | ||
| XM_017012319.2:c.520T>C | XP_016867808.1:p.Leu174= | |
| XR_001744808.2:n.1296T>C | ||
| XR_242246.5:n.2316T>C | ||
| NM_000466.3:c.2269T>C MANE Select | NP_000457.1:p.Leu757= | |
| NM_001282677.2:c.2098T>C | NP_001269606.1:p.Leu700= | |
| NM_001282678.2:c.1645T>C | NP_001269607.1:p.Leu549= |