Linked Data
ClinVar Variation Id:
2069082
ClinVar RCV Id:
RCV002961882
dbSNP Id:
rs767979288
ExAC:
14:100405547 A / G
gnomAD v2:
14-100405547-A-G
gnomAD v3:
14-99939210-A-G
gnomAD v4:
14-99939210-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99939210A>G , CM000676.2:g.99939210A>G | GRCh38 |
| NC_000014.8:g.100405547A>G , CM000676.1:g.100405547A>G | GRCh37 |
| NC_000014.7:g.99475300A>G | NCBI36 |
| NG_052827.1:g.206512A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262233.11:c.2205A>G MANE Select | ENSP00000262233.7:p.Glu735= | |
| ENST00000649352.1:c.2280A>G | ENSP00000498100.1:p.Glu760= | |
| ENST00000262233.10:c.2205A>G | ENSP00000262233.6:p.Glu735= | |
| ENST00000327921.13:c.2169A>G | ENSP00000327384.9:p.Glu723= | |
| ENST00000334192.8:c.2262A>G | ENSP00000334314.4:p.Glu754= | |
| ENST00000553313.1:n.278A>G | ||
| ENST00000557313.5:c.541A>G | ||
| NM_001008707.1:c.2262A>G | NP_001008707.1:p.Glu754= | |
| NM_004434.2:c.2205A>G | NP_004425.2:p.Glu735= | |
| XM_005267397.1:c.2262A>G | XP_005267454.1:p.Glu754= | |
| XM_005267398.3:c.2223A>G | XP_005267455.1:p.Glu741= | |
| XM_005267399.3:c.2280A>G | XP_005267456.2:p.Glu760= | |
| XM_005267400.3:c.2166A>G | XP_005267457.1:p.Glu722= | |
| XM_011536540.1:c.2223A>G | XP_011534842.1:p.Glu741= | |
| XM_011536541.1:c.2169A>G | XP_011534843.1:p.Glu723= | |
| XM_011536542.1:c.2148A>G | XP_011534844.1:p.Glu716= | |
| XM_005267399.4:c.2280A>G | XP_005267456.2:p.Glu760= | |
| XM_005267400.4:c.2166A>G | XP_005267457.1:p.Glu722= | |
| XM_011536540.2:c.2223A>G | XP_011534842.1:p.Glu741= | |
| XM_011536542.3:c.2148A>G | XP_011534844.1:p.Glu716= | |
| XM_017021074.2:c.2073A>G | XP_016876563.1:p.Glu691= | |
| XM_024449507.1:c.1641A>G | XP_024305275.1:p.Glu547= | |
| NM_001008707.2:c.2262A>G | NP_001008707.1:p.Glu754= | |
| NM_001375411.1:c.2166A>G | NP_001362340.1:p.Glu722= | |
| NM_001375412.1:c.2073A>G | NP_001362341.1:p.Glu691= | |
| NM_004434.3:c.2205A>G MANE Select | NP_004425.2:p.Glu735= |