Revel Score:
ENST00000457016
0.660
ENST00000257430 (MANE Select)
0.660
ENST00000508376
0.660
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842271G>A , CM000667.2:g.112842271G>A | GRCh38 |
| NC_000005.9:g.112177968G>A , CM000667.1:g.112177968G>A | GRCh37 |
| NC_000005.8:g.112205867G>A | NCBI36 |
| NG_008481.4:g.154751G>A , LRG_130:g.154751G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6731G>A | ENSP00000473355.2:p.Arg2244Gln | |
| ENST00000505350.2:c.*6683G>A | ENSP00000481752.1:n.*6683G>A | |
| ENST00000507379.6:c.6623G>A | ENSP00000423224.2:p.Arg2208Gln | |
| ENST00000509732.6:c.6677G>A | ENSP00000426541.2:p.Arg2226Gln | |
| ENST00000512211.7:c.6677G>A | ENSP00000423828.3:p.Arg2226Gln | |
| ENST00000257430.9:c.6677G>A MANE Select | ENSP00000257430.4:p.Arg2226Gln | |
| ENST00000257430.8:c.6677G>A | ENSP00000257430.4:p.Arg2226Gln | |
| ENST00000508376.6:c.6677G>A | ENSP00000427089.2:p.Arg2226Gln | |
| ENST00000508624.5:c.*5999G>A | ENSP00000424265.1:n.*5999G>A | |
| ENST00000520401.1:c.230+13299G>A | ||
| NM_000038.5:c.6677G>A | NP_000029.2:p.Arg2226Gln | |
| NM_001127510.2:c.6677G>A | NP_001120982.1:p.Arg2226Gln | |
| NM_001127511.2:c.6623G>A | NP_001120983.2:p.Arg2208Gln | |
| NM_001354895.1:c.6677G>A | NP_001341824.1:p.Arg2226Gln | |
| NM_001354896.1:c.6731G>A | NP_001341825.1:p.Arg2244Gln | |
| NM_001354897.1:c.6707G>A | NP_001341826.1:p.Arg2236Gln | |
| NM_001354898.1:c.6602G>A | NP_001341827.1:p.Arg2201Gln | |
| NM_001354899.1:c.6593G>A | NP_001341828.1:p.Arg2198Gln | |
| NM_001354900.1:c.6554G>A | NP_001341829.1:p.Arg2185Gln | |
| NM_001354901.1:c.6500G>A | NP_001341830.1:p.Arg2167Gln | |
| NM_001354902.1:c.6404G>A | NP_001341831.1:p.Arg2135Gln | |
| NM_001354903.1:c.6374G>A | NP_001341832.1:p.Arg2125Gln | |
| NM_001354904.1:c.6299G>A | NP_001341833.1:p.Arg2100Gln | |
| NM_001354905.1:c.6197G>A | NP_001341834.1:p.Arg2066Gln | |
| NM_001354906.1:c.5828G>A | NP_001341835.1:p.Arg1943Gln | |
| NM_000038.6:c.6677G>A MANE Select | NP_000029.2:p.Arg2226Gln | |
| NM_001127510.3:c.6677G>A | NP_001120982.1:p.Arg2226Gln | |
| NM_001127511.3:c.6623G>A | NP_001120983.2:p.Arg2208Gln | |
| NM_001354895.2:c.6677G>A | NP_001341824.1:p.Arg2226Gln | |
| NM_001354896.2:c.6731G>A | NP_001341825.1:p.Arg2244Gln | |
| NM_001354897.2:c.6707G>A | NP_001341826.1:p.Arg2236Gln | |
| NM_001354898.2:c.6602G>A | NP_001341827.1:p.Arg2201Gln | |
| NM_001354899.2:c.6593G>A | NP_001341828.1:p.Arg2198Gln | |
| NM_001354900.2:c.6554G>A | NP_001341829.1:p.Arg2185Gln | |
| NM_001354901.2:c.6500G>A | NP_001341830.1:p.Arg2167Gln | |
| NM_001354902.2:c.6404G>A | NP_001341831.1:p.Arg2135Gln | |
| NM_001354903.2:c.6374G>A | NP_001341832.1:p.Arg2125Gln | |
| NM_001354904.2:c.6299G>A | NP_001341833.1:p.Arg2100Gln | |
| NM_001354905.2:c.6197G>A | NP_001341834.1:p.Arg2066Gln | |
| NM_001354906.2:c.5828G>A | NP_001341835.1:p.Arg1943Gln |