Linked Data
ClinVar Variation Id:
1762595
ClinVar RCV Id:
RCV002430129
dbSNP Id:
rs774747249
ExAC:
5:112179531 C / G
gnomAD v2:
5-112179531-C-G
gnomAD v4:
5-112843834-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843834C>G , CM000667.2:g.112843834C>G | GRCh38 |
| NC_000005.9:g.112179531C>G , CM000667.1:g.112179531C>G | GRCh37 |
| NC_000005.8:g.112207430C>G | NCBI36 |
| NG_008481.4:g.156314C>G , LRG_130:g.156314C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8294C>G | ENSP00000473355.2:p.Pro2765Arg | |
| ENST00000505350.2:c.*8246C>G | ENSP00000481752.1:n.*8246C>G | |
| ENST00000507379.6:c.8186C>G | ENSP00000423224.2:p.Pro2729Arg | |
| ENST00000509732.6:c.8240C>G | ENSP00000426541.2:p.Pro2747Arg | |
| ENST00000512211.7:c.8240C>G | ENSP00000423828.3:p.Pro2747Arg | |
| ENST00000257430.9:c.8240C>G MANE Select | ENSP00000257430.4:p.Pro2747Arg | |
| ENST00000257430.8:c.8240C>G | ENSP00000257430.4:p.Pro2747Arg | |
| ENST00000508376.6:c.8240C>G | ENSP00000427089.2:p.Pro2747Arg | |
| ENST00000520401.1:c.231-12815C>G | ||
| NM_000038.5:c.8240C>G | NP_000029.2:p.Pro2747Arg | |
| NM_001127510.2:c.8240C>G | NP_001120982.1:p.Pro2747Arg | |
| NM_001127511.2:c.8186C>G | NP_001120983.2:p.Pro2729Arg | |
| NM_001354895.1:c.8240C>G | NP_001341824.1:p.Pro2747Arg | |
| NM_001354896.1:c.8294C>G | NP_001341825.1:p.Pro2765Arg | |
| NM_001354897.1:c.8270C>G | NP_001341826.1:p.Pro2757Arg | |
| NM_001354898.1:c.8165C>G | NP_001341827.1:p.Pro2722Arg | |
| NM_001354899.1:c.8156C>G | NP_001341828.1:p.Pro2719Arg | |
| NM_001354900.1:c.8117C>G | NP_001341829.1:p.Pro2706Arg | |
| NM_001354901.1:c.8063C>G | NP_001341830.1:p.Pro2688Arg | |
| NM_001354902.1:c.7967C>G | NP_001341831.1:p.Pro2656Arg | |
| NM_001354903.1:c.7937C>G | NP_001341832.1:p.Pro2646Arg | |
| NM_001354904.1:c.7862C>G | NP_001341833.1:p.Pro2621Arg | |
| NM_001354905.1:c.7760C>G | NP_001341834.1:p.Pro2587Arg | |
| NM_001354906.1:c.7391C>G | NP_001341835.1:p.Pro2464Arg | |
| NM_000038.6:c.8240C>G MANE Select | NP_000029.2:p.Pro2747Arg | |
| NM_001127510.3:c.8240C>G | NP_001120982.1:p.Pro2747Arg | |
| NM_001127511.3:c.8186C>G | NP_001120983.2:p.Pro2729Arg | |
| NM_001354895.2:c.8240C>G | NP_001341824.1:p.Pro2747Arg | |
| NM_001354896.2:c.8294C>G | NP_001341825.1:p.Pro2765Arg | |
| NM_001354897.2:c.8270C>G | NP_001341826.1:p.Pro2757Arg | |
| NM_001354898.2:c.8165C>G | NP_001341827.1:p.Pro2722Arg | |
| NM_001354899.2:c.8156C>G | NP_001341828.1:p.Pro2719Arg | |
| NM_001354900.2:c.8117C>G | NP_001341829.1:p.Pro2706Arg | |
| NM_001354901.2:c.8063C>G | NP_001341830.1:p.Pro2688Arg | |
| NM_001354902.2:c.7967C>G | NP_001341831.1:p.Pro2656Arg | |
| NM_001354903.2:c.7937C>G | NP_001341832.1:p.Pro2646Arg | |
| NM_001354904.2:c.7862C>G | NP_001341833.1:p.Pro2621Arg | |
| NM_001354905.2:c.7760C>G | NP_001341834.1:p.Pro2587Arg | |
| NM_001354906.2:c.7391C>G | NP_001341835.1:p.Pro2464Arg |