Revel Score:
ENST00000259938 (MANE Select)
0.010
ENST00000541088
0.010
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35795160G>T , CM000668.2:g.35795160G>T | GRCh38 |
| NC_000006.11:g.35762937G>T , CM000668.1:g.35762937G>T | GRCh37 |
| NC_000006.10:g.35870915G>T | NCBI36 |
| NG_012184.3:g.2955G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259938.7:c.325C>A MANE Select | ENSP00000259938.2:p.Arg109Ser | |
| ENST00000259938.6:c.325C>A | ENSP00000259938.2:p.Arg109Ser | |
| ENST00000616014.3:c.202C>A | ENSP00000483589.1:p.Arg68Ser | |
| ENST00000622413.2:c.283C>A | ENSP00000482919.1:p.Arg95Ser | |
| NM_001252597.1:c.283C>A | NP_001239526.1:p.Arg95Ser | |
| NM_001252598.1:c.202C>A | NP_001239527.1:p.Arg68Ser | |
| NM_001832.3:c.325C>A | NP_001823.1:p.Arg109Ser | |
| NM_001252597.2:c.283C>A | NP_001239526.1:p.Arg95Ser | |
| NM_001832.4:c.325C>A MANE Select | NP_001823.1:p.Arg109Ser | |
| NM_001252598.2:c.202C>A | NP_001239527.1:p.Arg68Ser |