Revel Score:
ENST00000345060 (MANE Select)
0.695
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965587C>G , CM000670.2:g.37965587C>G | GRCh38 |
| NC_000008.10:g.37823105C>G , CM000670.1:g.37823105C>G | GRCh37 |
| NC_000008.9:g.37942262C>G | NCBI36 |
| NG_011936.1:g.6080G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.883G>C MANE Select | ENSP00000343782.3:p.Gly295Arg | |
| ENST00000520341.2:n.1011G>C | ||
| ENST00000647937.1:c.367G>C | ENSP00000497740.1:p.Gly123Arg | |
| ENST00000345060.4:c.883G>C | ENSP00000343782.3:p.Gly295Arg | |
| ENST00000520341.1:n.158G>C | ||
| ENST00000614635.1:c.883G>C | ENSP00000480325.1:p.Gly295Arg | |
| NM_000025.2:c.883G>C | NP_000016.1:p.Gly295Arg | |
| NM_000025.3:c.883G>C MANE Select | NP_000016.1:p.Gly295Arg |