Revel Score:
ENST00000259938 (MANE Select)
0.042
ENST00000541088
0.042
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35795160G>C , CM000668.2:g.35795160G>C | GRCh38 |
| NC_000006.11:g.35762937G>C , CM000668.1:g.35762937G>C | GRCh37 |
| NC_000006.10:g.35870915G>C | NCBI36 |
| NG_012184.3:g.2955G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259938.7:c.325C>G MANE Select | ENSP00000259938.2:p.Arg109Gly | |
| ENST00000259938.6:c.325C>G | ENSP00000259938.2:p.Arg109Gly | |
| ENST00000616014.3:c.202C>G | ENSP00000483589.1:p.Arg68Gly | |
| ENST00000622413.2:c.283C>G | ENSP00000482919.1:p.Arg95Gly | |
| NM_001252597.1:c.283C>G | NP_001239526.1:p.Arg95Gly | |
| NM_001252598.1:c.202C>G | NP_001239527.1:p.Arg68Gly | |
| NM_001832.3:c.325C>G | NP_001823.1:p.Arg109Gly | |
| NM_001252597.2:c.283C>G | NP_001239526.1:p.Arg95Gly | |
| NM_001832.4:c.325C>G MANE Select | NP_001823.1:p.Arg109Gly | |
| NM_001252598.2:c.202C>G | NP_001239527.1:p.Arg68Gly |