Revel Score:
ENST00000305123 (MANE Select)
0.229
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.226795828C>G , CM000664.2:g.226795828C>G | GRCh38 |
| NC_000002.11:g.227660544C>G , CM000664.1:g.227660544C>G | GRCh37 |
| NC_000002.10:g.227368788C>G | NCBI36 |
| NG_015830.1:g.7963G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305123.6:c.2911G>C MANE Select | ENSP00000304895.4:p.Gly971Arg | |
| ENST00000305123.5:c.2911G>C | ENSP00000304895.4:p.Gly971Arg | |
| NM_005544.2:c.2911G>C | NP_005535.1:p.Gly971Arg | |
| NM_005544.3:c.2911G>C MANE Select | NP_005535.1:p.Gly971Arg |