Revel Score:
ENST00000277541
0.209
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136508238G>C , CM000671.2:g.136508238G>C | GRCh38 |
| NC_000009.11:g.139402690G>C , CM000671.1:g.139402690G>C | GRCh37 |
| NC_000009.10:g.138522511G>C | NCBI36 |
| NG_007458.1:g.42549C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.1126C>G | ||
| ENST00000651671.1:c.3319C>G MANE Select | ENSP00000498587.1:p.Arg1107Gly | |
| ENST00000679595.1:c.3319C>G | ENSP00000506241.1:p.Arg1107Gly | |
| ENST00000680133.1:c.3205C>G | ENSP00000505319.1:p.Arg1069Gly | |
| ENST00000680218.1:c.3319C>G | ENSP00000505339.1:p.Arg1107Gly | |
| ENST00000680668.1:c.3205C>G | ENSP00000506336.1:p.Arg1069Gly | |
| ENST00000680778.1:c.916C>G | ENSP00000506033.1:p.Arg306Gly | |
| ENST00000680924.1:c.*719C>G | ENSP00000506031.1:n.*719C>G | |
| ENST00000681135.1:c.*928C>G | ENSP00000506636.1:n.*928C>G | |
| ENST00000681298.1:n.132C>G | ||
| ENST00000681454.1:c.*2555C>G | ENSP00000505763.1:n.*2555C>G | |
| ENST00000277541.6:c.3319C>G | ENSP00000277541.6:p.Arg1107Gly | |
| NM_017617.3:c.3319C>G | NP_060087.3:p.Arg1107Gly | |
| XM_011518717.1:c.2620C>G | XP_011517019.1:p.Arg874Gly | |
| NM_017617.5:c.3319C>G MANE Select | NP_060087.3:p.Arg1107Gly | |
| XM_011518717.2:c.2596C>G | XP_011517019.2:p.Arg866Gly |