Revel Score:
ENST00000438045
0.208
ENST00000248633 (MANE Select)
0.208
ENST00000428214
0.208
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92501985T>C , CM000669.2:g.92501985T>C | GRCh38 |
| NC_000007.13:g.92131299T>C , CM000669.1:g.92131299T>C | GRCh37 |
| NC_000007.12:g.91969235T>C | NCBI36 |
| NG_008341.1:g.31547A>G | |
| NG_008341.2:g.31547A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2321A>G MANE Select | ENSP00000248633.4:p.Lys774Arg | |
| ENST00000248633.8:c.2321A>G | ENSP00000248633.4:p.Lys774Arg | |
| ENST00000428214.5:c.2150A>G | ENSP00000394413.1:p.Lys717Arg | |
| ENST00000438045.5:c.1355A>G | ENSP00000410438.1:p.Lys452Arg | |
| ENST00000484913.5:n.2360A>G | ||
| ENST00000496092.1:n.119A>G | ||
| ENST00000496420.5:n.1997A>G | ||
| NM_000466.2:c.2321A>G | NP_000457.1:p.Lys774Arg | |
| NM_001282677.1:c.2150A>G | NP_001269606.1:p.Lys717Arg | |
| NM_001282678.1:c.1697A>G | NP_001269607.1:p.Lys566Arg | |
| XM_005250433.3:c.572A>G | XP_005250490.1:p.Lys191Arg | |
| XR_242246.3:n.2417A>G | ||
| XM_017012319.2:c.572A>G | XP_016867808.1:p.Lys191Arg | |
| XR_001744808.2:n.1348A>G | ||
| XR_242246.5:n.2368A>G | ||
| NM_000466.3:c.2321A>G MANE Select | NP_000457.1:p.Lys774Arg | |
| NM_001282677.2:c.2150A>G | NP_001269606.1:p.Lys717Arg | |
| NM_001282678.2:c.1697A>G | NP_001269607.1:p.Lys566Arg |