Revel Score:
ENST00000414311
0.893
ENST00000376369
0.893
ENST00000196061 (MANE Select)
0.893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11974656G>C , CM000663.2:g.11974656G>C | GRCh38 |
| NC_000001.10:g.12034713G>C , CM000663.1:g.12034713G>C | GRCh37 |
| NC_000001.9:g.11957300G>C | NCBI36 |
| NG_008159.1:g.44968G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.2032G>C MANE Select | ENSP00000196061.4:p.Gly678Arg | |
| ENST00000196061.4:c.2032G>C | ENSP00000196061.4:p.Gly678Arg | |
| ENST00000481933.1:n.1459G>C | ||
| ENST00000491536.5:n.384-627G>C | ||
| NM_000302.3:c.2032G>C | NP_000293.2:p.Gly678Arg | |
| NM_001316320.1:c.2173G>C | NP_001303249.1:p.Gly725Arg | |
| XM_011541594.1:c.2113G>C | XP_011539896.1:p.Gly705Arg | |
| XM_024447707.1:c.1366G>C | XP_024303475.1:p.Gly456Arg | |
| NM_000302.4:c.2032G>C MANE Select | NP_000293.2:p.Gly678Arg | |
| NM_001316320.2:c.2173G>C | NP_001303249.1:p.Gly725Arg |