Revel Score:
ENST00000320574 (MANE Select)
0.334
ENST00000455752
0.334
ENST00000535270
0.334
ENST00000539006
0.334
ENST00000376577
0.334
ENST00000535934
0.334
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673598G>C , CM000674.2:g.132673598G>C | GRCh38 |
| NC_000012.11:g.133250184G>C , CM000674.1:g.133250184G>C | GRCh37 |
| NC_000012.10:g.131760257G>C | NCBI36 |
| NG_033840.1:g.18927C>G , LRG_789:g.18927C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.44C>G | ||
| ENST00000545015.2:n.1363C>G | ||
| ENST00000699982.1:c.1190C>G | ||
| ENST00000699983.1:c.1190C>G | ||
| ENST00000699984.1:c.1190C>G | ||
| ENST00000320574.10:c.1336C>G MANE Select | ENSP00000322570.5:p.Arg446Gly | |
| ENST00000672742.1:c.*838C>G | ENSP00000500279.1:n.*838C>G | |
| ENST00000320574.9:c.1336C>G | ENSP00000322570.5:p.Arg446Gly | |
| ENST00000535270.5:c.1255C>G | ENSP00000445753.1:p.Arg419Gly | |
| ENST00000535934.2:n.1211C>G | ||
| ENST00000537064.5:c.*383C>G | ENSP00000442578.1:n.*383C>G | |
| ENST00000539215.5:n.44C>G | ||
| NM_006231.3:c.1336C>G , LRG_789t1:c.1336C>G | NP_006222.2:p.Arg446Gly | |
| XM_011534795.1:c.1336C>G | XP_011533097.1:p.Arg446Gly | |
| XM_011534796.1:c.1207C>G | XP_011533098.1:p.Arg403Gly | |
| XM_011534797.1:c.415C>G | XP_011533099.1:p.Arg139Gly | |
| XM_011534799.1:c.1336C>G | XP_011533101.1:p.Arg446Gly | |
| XM_011534800.1:c.1336C>G | XP_011533102.1:p.Arg446Gly | |
| XM_011534801.1:c.1336C>G | XP_011533103.1:p.Arg446Gly | |
| XR_941395.1:n.1545C>G | ||
| XM_011534795.3:c.1336C>G | XP_011533097.1:p.Arg446Gly | |
| XM_011534797.3:c.415C>G | XP_011533099.1:p.Arg139Gly | |
| XM_011534799.2:c.1336C>G | XP_011533101.1:p.Arg446Gly | |
| XR_002957338.1:n.1540C>G | ||
| XR_002957339.1:n.1540C>G | ||
| XR_941395.2:n.1540C>G | ||
| NM_006231.4:c.1336C>G MANE Select | NP_006222.2:p.Arg446Gly |