Revel Score:
ENST00000371486 (MANE Select)
0.756
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53213509C>G , CM000663.2:g.53213509C>G | GRCh38 |
| NC_000001.10:g.53679181C>G , CM000663.1:g.53679181C>G | GRCh37 |
| NC_000001.9:g.53451769C>G | NCBI36 |
| NG_008035.1:g.22081C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.1891C>G MANE Select | ENSP00000360541.3:p.Arg631Gly | |
| ENST00000635862.1:c.1858C>G | ENSP00000490867.1:p.Arg620Gly | |
| ENST00000635888.1:c.*1877C>G | ENSP00000490042.1:n.*1877C>G | |
| ENST00000636239.1:c.*1538C>G | ENSP00000490066.1:n.*1538C>G | |
| ENST00000636867.1:c.1822C>G | ENSP00000489631.1:p.Arg608Gly | |
| ENST00000636891.1:c.*144C>G | ENSP00000490399.1:n.*144C>G | |
| ENST00000636935.1:c.586C>G | ENSP00000489757.1:p.Arg196Gly | |
| ENST00000637252.1:c.1927C>G | ENSP00000490492.1:p.Arg643Gly | |
| ENST00000638135.1:c.*1538C>G | ENSP00000489756.1:n.*1538C>G | |
| ENST00000371486.3:c.1891C>G | ENSP00000360541.3:p.Arg631Gly | |
| NM_000098.2:c.1891C>G | NP_000089.1:p.Arg631Gly | |
| XM_005270484.1:c.1822C>G | XP_005270541.1:p.Arg608Gly | |
| NM_001330589.1:c.1822C>G | NP_001317518.1:p.Arg608Gly | |
| NM_000098.3:c.1891C>G MANE Select | NP_000089.1:p.Arg631Gly | |
| NM_001330589.2:c.1822C>G | NP_001317518.1:p.Arg608Gly |