Linked Data
ClinVar Variation Id:
82635
ClinVar RCV Id:
RCV003650364
dbSNP Id:
rs79630786
ExAC:
5:112178804 C / G
gnomAD v2:
5-112178804-C-G
gnomAD v4:
5-112843107-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843107C>G , CM000667.2:g.112843107C>G | GRCh38 |
| NC_000005.9:g.112178804C>G , CM000667.1:g.112178804C>G | GRCh37 |
| NC_000005.8:g.112206703C>G | NCBI36 |
| NG_008481.4:g.155587C>G , LRG_130:g.155587C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504915.3:c.7567C>G | ENSP00000473355.2:p.Arg2523Gly | |
| ENST00000505350.2:c.*7519C>G | ENSP00000481752.1:n.*7519C>G | |
| ENST00000507379.6:c.7459C>G | ENSP00000423224.2:p.Arg2487Gly | |
| ENST00000509732.6:c.7513C>G | ENSP00000426541.2:p.Arg2505Gly | |
| ENST00000512211.7:c.7513C>G | ENSP00000423828.3:p.Arg2505Gly | |
| ENST00000257430.9:c.7513C>G MANE Select | ENSP00000257430.4:p.Arg2505Gly | |
| ENST00000257430.8:c.7513C>G | ENSP00000257430.4:p.Arg2505Gly | |
| ENST00000508376.6:c.7513C>G | ENSP00000427089.2:p.Arg2505Gly | |
| ENST00000520401.1:c.231-13542C>G | ||
| NM_000038.5:c.7513C>G | NP_000029.2:p.Arg2505Gly | |
| NM_001127510.2:c.7513C>G | NP_001120982.1:p.Arg2505Gly | |
| NM_001127511.2:c.7459C>G | NP_001120983.2:p.Arg2487Gly | |
| NM_001354895.1:c.7513C>G | NP_001341824.1:p.Arg2505Gly | |
| NM_001354896.1:c.7567C>G | NP_001341825.1:p.Arg2523Gly | |
| NM_001354897.1:c.7543C>G | NP_001341826.1:p.Arg2515Gly | |
| NM_001354898.1:c.7438C>G | NP_001341827.1:p.Arg2480Gly | |
| NM_001354899.1:c.7429C>G | NP_001341828.1:p.Arg2477Gly | |
| NM_001354900.1:c.7390C>G | NP_001341829.1:p.Arg2464Gly | |
| NM_001354901.1:c.7336C>G | NP_001341830.1:p.Arg2446Gly | |
| NM_001354902.1:c.7240C>G | NP_001341831.1:p.Arg2414Gly | |
| NM_001354903.1:c.7210C>G | NP_001341832.1:p.Arg2404Gly | |
| NM_001354904.1:c.7135C>G | NP_001341833.1:p.Arg2379Gly | |
| NM_001354905.1:c.7033C>G | NP_001341834.1:p.Arg2345Gly | |
| NM_001354906.1:c.6664C>G | NP_001341835.1:p.Arg2222Gly | |
| NM_000038.6:c.7513C>G MANE Select | NP_000029.2:p.Arg2505Gly | |
| NM_001127510.3:c.7513C>G | NP_001120982.1:p.Arg2505Gly | |
| NM_001127511.3:c.7459C>G | NP_001120983.2:p.Arg2487Gly | |
| NM_001354895.2:c.7513C>G | NP_001341824.1:p.Arg2505Gly | |
| NM_001354896.2:c.7567C>G | NP_001341825.1:p.Arg2523Gly | |
| NM_001354897.2:c.7543C>G | NP_001341826.1:p.Arg2515Gly | |
| NM_001354898.2:c.7438C>G | NP_001341827.1:p.Arg2480Gly | |
| NM_001354899.2:c.7429C>G | NP_001341828.1:p.Arg2477Gly | |
| NM_001354900.2:c.7390C>G | NP_001341829.1:p.Arg2464Gly | |
| NM_001354901.2:c.7336C>G | NP_001341830.1:p.Arg2446Gly | |
| NM_001354902.2:c.7240C>G | NP_001341831.1:p.Arg2414Gly | |
| NM_001354903.2:c.7210C>G | NP_001341832.1:p.Arg2404Gly | |
| NM_001354904.2:c.7135C>G | NP_001341833.1:p.Arg2379Gly | |
| NM_001354905.2:c.7033C>G | NP_001341834.1:p.Arg2345Gly | |
| NM_001354906.2:c.6664C>G | NP_001341835.1:p.Arg2222Gly |