Linked Data
ClinVar Variation Id:
470134
dbSNP Id:
rs1404406885
gnomAD v2:
5-112179517-A-G
gnomAD v3:
5-112843820-A-G
gnomAD v4:
5-112843820-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843820A>G , CM000667.2:g.112843820A>G | GRCh38 |
| NC_000005.9:g.112179517A>G , CM000667.1:g.112179517A>G | GRCh37 |
| NC_000005.8:g.112207416A>G | NCBI36 |
| NG_008481.4:g.156300A>G , LRG_130:g.156300A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504915.3:c.8280A>G | ENSP00000473355.2:p.Gln2760= | |
| ENST00000505350.2:c.*8232A>G | ENSP00000481752.1:n.*8232A>G | |
| ENST00000507379.6:c.8172A>G | ENSP00000423224.2:p.Gln2724= | |
| ENST00000509732.6:c.8226A>G | ENSP00000426541.2:p.Gln2742= | |
| ENST00000512211.7:c.8226A>G | ENSP00000423828.3:p.Gln2742= | |
| ENST00000257430.9:c.8226A>G MANE Select | ENSP00000257430.4:p.Gln2742= | |
| ENST00000257430.8:c.8226A>G | ENSP00000257430.4:p.Gln2742= | |
| ENST00000508376.6:c.8226A>G | ENSP00000427089.2:p.Gln2742= | |
| ENST00000520401.1:c.231-12829A>G | ||
| NM_000038.5:c.8226A>G | NP_000029.2:p.Gln2742= | |
| NM_001127510.2:c.8226A>G | NP_001120982.1:p.Gln2742= | |
| NM_001127511.2:c.8172A>G | NP_001120983.2:p.Gln2724= | |
| NM_001354895.1:c.8226A>G | NP_001341824.1:p.Gln2742= | |
| NM_001354896.1:c.8280A>G | NP_001341825.1:p.Gln2760= | |
| NM_001354897.1:c.8256A>G | NP_001341826.1:p.Gln2752= | |
| NM_001354898.1:c.8151A>G | NP_001341827.1:p.Gln2717= | |
| NM_001354899.1:c.8142A>G | NP_001341828.1:p.Gln2714= | |
| NM_001354900.1:c.8103A>G | NP_001341829.1:p.Gln2701= | |
| NM_001354901.1:c.8049A>G | NP_001341830.1:p.Gln2683= | |
| NM_001354902.1:c.7953A>G | NP_001341831.1:p.Gln2651= | |
| NM_001354903.1:c.7923A>G | NP_001341832.1:p.Gln2641= | |
| NM_001354904.1:c.7848A>G | NP_001341833.1:p.Gln2616= | |
| NM_001354905.1:c.7746A>G | NP_001341834.1:p.Gln2582= | |
| NM_001354906.1:c.7377A>G | NP_001341835.1:p.Gln2459= | |
| NM_000038.6:c.8226A>G MANE Select | NP_000029.2:p.Gln2742= | |
| NM_001127510.3:c.8226A>G | NP_001120982.1:p.Gln2742= | |
| NM_001127511.3:c.8172A>G | NP_001120983.2:p.Gln2724= | |
| NM_001354895.2:c.8226A>G | NP_001341824.1:p.Gln2742= | |
| NM_001354896.2:c.8280A>G | NP_001341825.1:p.Gln2760= | |
| NM_001354897.2:c.8256A>G | NP_001341826.1:p.Gln2752= | |
| NM_001354898.2:c.8151A>G | NP_001341827.1:p.Gln2717= | |
| NM_001354899.2:c.8142A>G | NP_001341828.1:p.Gln2714= | |
| NM_001354900.2:c.8103A>G | NP_001341829.1:p.Gln2701= | |
| NM_001354901.2:c.8049A>G | NP_001341830.1:p.Gln2683= | |
| NM_001354902.2:c.7953A>G | NP_001341831.1:p.Gln2651= | |
| NM_001354903.2:c.7923A>G | NP_001341832.1:p.Gln2641= | |
| NM_001354904.2:c.7848A>G | NP_001341833.1:p.Gln2616= | |
| NM_001354905.2:c.7746A>G | NP_001341834.1:p.Gln2582= | |
| NM_001354906.2:c.7377A>G | NP_001341835.1:p.Gln2459= |