Revel Score:
ENST00000345060 (MANE Select)
0.568
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008196 (SAS)
Exomes Max Group AF
0.00007732 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965586C>G , CM000670.2:g.37965586C>G | GRCh38 |
| NC_000008.10:g.37823104C>G , CM000670.1:g.37823104C>G | GRCh37 |
| NC_000008.9:g.37942261C>G | NCBI36 |
| NG_011936.1:g.6081G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.884G>C MANE Select | ENSP00000343782.3:p.Gly295Ala | |
| ENST00000520341.2:n.1012G>C | ||
| ENST00000647937.1:c.368G>C | ENSP00000497740.1:p.Gly123Ala | |
| ENST00000345060.4:c.884G>C | ENSP00000343782.3:p.Gly295Ala | |
| ENST00000520341.1:n.159G>C | ||
| ENST00000614635.1:c.884G>C | ENSP00000480325.1:p.Gly295Ala | |
| NM_000025.2:c.884G>C | NP_000016.1:p.Gly295Ala | |
| NM_000025.3:c.884G>C MANE Select | NP_000016.1:p.Gly295Ala |