Revel Score:
ENST00000377432
0.778
ENST00000164139 (MANE Select)
0.778
ENST00000540450
0.778
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64747224C>G , CM000673.2:g.64747224C>G | GRCh38 |
| NC_000011.9:g.64514696C>G , CM000673.1:g.64514696C>G | GRCh37 |
| NC_000011.8:g.64271272C>G | NCBI36 |
| NG_007574.1:g.3233G>C , LRG_100:g.3233G>C | |
| NG_013018.1:g.18492G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.2312G>C MANE Select | ENSP00000164139.3:p.Arg771Pro | |
| ENST00000164139.3:c.2312G>C | ENSP00000164139.3:p.Arg771Pro | |
| ENST00000377432.7:c.2048G>C | ENSP00000366650.3:p.Arg683Pro | |
| ENST00000483742.1:n.1665G>C | ||
| NM_001164716.1:c.2048G>C | NP_001158188.1:p.Arg683Pro | |
| NM_005609.2:c.2312G>C | NP_005600.1:p.Arg771Pro | |
| NM_005609.3:c.2312G>C | NP_005600.1:p.Arg771Pro | |
| NM_005609.4:c.2312G>C MANE Select | NP_005600.1:p.Arg771Pro |