Linked Data
ClinVar Variation Id:
927546
dbSNP Id:
rs759069096
ExAC:
5:112178970 G / A
gnomAD v2:
5-112178970-G-A
gnomAD v3:
5-112843273-G-A
gnomAD v4:
5-112843273-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843273G>A , CM000667.2:g.112843273G>A | GRCh38 |
| NC_000005.9:g.112178970G>A , CM000667.1:g.112178970G>A | GRCh37 |
| NC_000005.8:g.112206869G>A | NCBI36 |
| NG_008481.4:g.155753G>A , LRG_130:g.155753G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7733G>A | ENSP00000473355.2:p.Arg2578Gln | |
| ENST00000505350.2:c.*7685G>A | ENSP00000481752.1:n.*7685G>A | |
| ENST00000507379.6:c.7625G>A | ENSP00000423224.2:p.Arg2542Gln | |
| ENST00000509732.6:c.7679G>A | ENSP00000426541.2:p.Arg2560Gln | |
| ENST00000512211.7:c.7679G>A | ENSP00000423828.3:p.Arg2560Gln | |
| ENST00000257430.9:c.7679G>A MANE Select | ENSP00000257430.4:p.Arg2560Gln | |
| ENST00000257430.8:c.7679G>A | ENSP00000257430.4:p.Arg2560Gln | |
| ENST00000508376.6:c.7679G>A | ENSP00000427089.2:p.Arg2560Gln | |
| ENST00000520401.1:c.231-13376G>A | ||
| NM_000038.5:c.7679G>A | NP_000029.2:p.Arg2560Gln | |
| NM_001127510.2:c.7679G>A | NP_001120982.1:p.Arg2560Gln | |
| NM_001127511.2:c.7625G>A | NP_001120983.2:p.Arg2542Gln | |
| NM_001354895.1:c.7679G>A | NP_001341824.1:p.Arg2560Gln | |
| NM_001354896.1:c.7733G>A | NP_001341825.1:p.Arg2578Gln | |
| NM_001354897.1:c.7709G>A | NP_001341826.1:p.Arg2570Gln | |
| NM_001354898.1:c.7604G>A | NP_001341827.1:p.Arg2535Gln | |
| NM_001354899.1:c.7595G>A | NP_001341828.1:p.Arg2532Gln | |
| NM_001354900.1:c.7556G>A | NP_001341829.1:p.Arg2519Gln | |
| NM_001354901.1:c.7502G>A | NP_001341830.1:p.Arg2501Gln | |
| NM_001354902.1:c.7406G>A | NP_001341831.1:p.Arg2469Gln | |
| NM_001354903.1:c.7376G>A | NP_001341832.1:p.Arg2459Gln | |
| NM_001354904.1:c.7301G>A | NP_001341833.1:p.Arg2434Gln | |
| NM_001354905.1:c.7199G>A | NP_001341834.1:p.Arg2400Gln | |
| NM_001354906.1:c.6830G>A | NP_001341835.1:p.Arg2277Gln | |
| NM_000038.6:c.7679G>A MANE Select | NP_000029.2:p.Arg2560Gln | |
| NM_001127510.3:c.7679G>A | NP_001120982.1:p.Arg2560Gln | |
| NM_001127511.3:c.7625G>A | NP_001120983.2:p.Arg2542Gln | |
| NM_001354895.2:c.7679G>A | NP_001341824.1:p.Arg2560Gln | |
| NM_001354896.2:c.7733G>A | NP_001341825.1:p.Arg2578Gln | |
| NM_001354897.2:c.7709G>A | NP_001341826.1:p.Arg2570Gln | |
| NM_001354898.2:c.7604G>A | NP_001341827.1:p.Arg2535Gln | |
| NM_001354899.2:c.7595G>A | NP_001341828.1:p.Arg2532Gln | |
| NM_001354900.2:c.7556G>A | NP_001341829.1:p.Arg2519Gln | |
| NM_001354901.2:c.7502G>A | NP_001341830.1:p.Arg2501Gln | |
| NM_001354902.2:c.7406G>A | NP_001341831.1:p.Arg2469Gln | |
| NM_001354903.2:c.7376G>A | NP_001341832.1:p.Arg2459Gln | |
| NM_001354904.2:c.7301G>A | NP_001341833.1:p.Arg2434Gln | |
| NM_001354905.2:c.7199G>A | NP_001341834.1:p.Arg2400Gln | |
| NM_001354906.2:c.6830G>A | NP_001341835.1:p.Arg2277Gln |