Linked Data
ClinVar Variation Id:
416753
dbSNP Id:
rs767286063
gnomAD v3:
5-112843611-A-C
gnomAD v4:
5-112843611-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843611A>C , CM000667.2:g.112843611A>C | GRCh38 |
| NC_000005.9:g.112179308A>C , CM000667.1:g.112179308A>C | GRCh37 |
| NC_000005.8:g.112207207A>C | NCBI36 |
| NG_008481.4:g.156091A>C , LRG_130:g.156091A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504915.3:c.8071A>C | ENSP00000473355.2:p.Arg2691= | |
| ENST00000505350.2:c.*8023A>C | ENSP00000481752.1:n.*8023A>C | |
| ENST00000507379.6:c.7963A>C | ENSP00000423224.2:p.Arg2655= | |
| ENST00000509732.6:c.8017A>C | ENSP00000426541.2:p.Arg2673= | |
| ENST00000512211.7:c.8017A>C | ENSP00000423828.3:p.Arg2673= | |
| ENST00000257430.9:c.8017A>C MANE Select | ENSP00000257430.4:p.Arg2673= | |
| ENST00000257430.8:c.8017A>C | ENSP00000257430.4:p.Arg2673= | |
| ENST00000508376.6:c.8017A>C | ENSP00000427089.2:p.Arg2673= | |
| ENST00000520401.1:c.231-13038A>C | ||
| NM_000038.5:c.8017A>C | NP_000029.2:p.Arg2673= | |
| NM_001127510.2:c.8017A>C | NP_001120982.1:p.Arg2673= | |
| NM_001127511.2:c.7963A>C | NP_001120983.2:p.Arg2655= | |
| NM_001354895.1:c.8017A>C | NP_001341824.1:p.Arg2673= | |
| NM_001354896.1:c.8071A>C | NP_001341825.1:p.Arg2691= | |
| NM_001354897.1:c.8047A>C | NP_001341826.1:p.Arg2683= | |
| NM_001354898.1:c.7942A>C | NP_001341827.1:p.Arg2648= | |
| NM_001354899.1:c.7933A>C | NP_001341828.1:p.Arg2645= | |
| NM_001354900.1:c.7894A>C | NP_001341829.1:p.Arg2632= | |
| NM_001354901.1:c.7840A>C | NP_001341830.1:p.Arg2614= | |
| NM_001354902.1:c.7744A>C | NP_001341831.1:p.Arg2582= | |
| NM_001354903.1:c.7714A>C | NP_001341832.1:p.Arg2572= | |
| NM_001354904.1:c.7639A>C | NP_001341833.1:p.Arg2547= | |
| NM_001354905.1:c.7537A>C | NP_001341834.1:p.Arg2513= | |
| NM_001354906.1:c.7168A>C | NP_001341835.1:p.Arg2390= | |
| NM_000038.6:c.8017A>C MANE Select | NP_000029.2:p.Arg2673= | |
| NM_001127510.3:c.8017A>C | NP_001120982.1:p.Arg2673= | |
| NM_001127511.3:c.7963A>C | NP_001120983.2:p.Arg2655= | |
| NM_001354895.2:c.8017A>C | NP_001341824.1:p.Arg2673= | |
| NM_001354896.2:c.8071A>C | NP_001341825.1:p.Arg2691= | |
| NM_001354897.2:c.8047A>C | NP_001341826.1:p.Arg2683= | |
| NM_001354898.2:c.7942A>C | NP_001341827.1:p.Arg2648= | |
| NM_001354899.2:c.7933A>C | NP_001341828.1:p.Arg2645= | |
| NM_001354900.2:c.7894A>C | NP_001341829.1:p.Arg2632= | |
| NM_001354901.2:c.7840A>C | NP_001341830.1:p.Arg2614= | |
| NM_001354902.2:c.7744A>C | NP_001341831.1:p.Arg2582= | |
| NM_001354903.2:c.7714A>C | NP_001341832.1:p.Arg2572= | |
| NM_001354904.2:c.7639A>C | NP_001341833.1:p.Arg2547= | |
| NM_001354905.2:c.7537A>C | NP_001341834.1:p.Arg2513= | |
| NM_001354906.2:c.7168A>C | NP_001341835.1:p.Arg2390= |