Revel Score:
ENST00000389048 (MANE Select)
0.052
ENST00000431873
0.052
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29920647C>G , CM000664.2:g.29920647C>G | GRCh38 |
| NC_000002.11:g.30143513C>G , CM000664.1:g.30143513C>G | GRCh37 |
| NC_000002.10:g.29997017C>G | NCBI36 |
| NG_009445.1:g.5920G>C , LRG_488:g.5920G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.13G>C MANE Select | ENSP00000373700.3:p.Gly5Arg | |
| ENST00000389048.7:c.13G>C | ENSP00000373700.3:p.Gly5Arg | |
| NM_004304.4:c.13G>C | NP_004295.2:p.Gly5Arg | |
| XR_001738688.2:n.943G>C | ||
| NM_004304.5:c.13G>C MANE Select | NP_004295.2:p.Gly5Arg |