Linked Data
ClinVar Variation Id:
1133293
ClinVar RCV Id:
RCV001467815
dbSNP Id:
rs1362565257
gnomAD v2:
7-92131208-T-C
gnomAD v4:
7-92501894-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92501894T>C , CM000669.2:g.92501894T>C | GRCh38 |
| NC_000007.13:g.92131208T>C , CM000669.1:g.92131208T>C | GRCh37 |
| NC_000007.12:g.91969144T>C | NCBI36 |
| NG_008341.1:g.31638A>G | |
| NG_008341.2:g.31638A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2412A>G MANE Select | ENSP00000248633.4:p.Arg804= | |
| ENST00000248633.8:c.2412A>G | ENSP00000248633.4:p.Arg804= | |
| ENST00000428214.5:c.2241A>G | ENSP00000394413.1:p.Arg747= | |
| ENST00000438045.5:c.1446A>G | ENSP00000410438.1:p.Arg482= | |
| ENST00000484913.5:n.2451A>G | ||
| ENST00000496092.1:n.210A>G | ||
| ENST00000496420.5:n.2088A>G | ||
| NM_000466.2:c.2412A>G | NP_000457.1:p.Arg804= | |
| NM_001282677.1:c.2241A>G | NP_001269606.1:p.Arg747= | |
| NM_001282678.1:c.1788A>G | NP_001269607.1:p.Arg596= | |
| XM_005250433.3:c.663A>G | XP_005250490.1:p.Arg221= | |
| XR_242246.3:n.2508A>G | ||
| XM_017012319.2:c.663A>G | XP_016867808.1:p.Arg221= | |
| XR_001744808.2:n.1439A>G | ||
| XR_242246.5:n.2459A>G | ||
| NM_000466.3:c.2412A>G MANE Select | NP_000457.1:p.Arg804= | |
| NM_001282677.2:c.2241A>G | NP_001269606.1:p.Arg747= | |
| NM_001282678.2:c.1788A>G | NP_001269607.1:p.Arg596= |