Revel Score:
ENST00000378623 (MANE Select)
0.934
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46875946C>G , CM000673.2:g.46875946C>G | GRCh38 |
| NC_000011.9:g.46897497C>G , CM000673.1:g.46897497C>G | GRCh37 |
| NC_000011.8:g.46854073C>G | NCBI36 |
| NG_021394.1:g.47677G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.3557G>C MANE Select | ENSP00000367888.1:p.Trp1186Ser | |
| ENST00000378623.5:c.3557G>C | ENSP00000367888.1:p.Trp1186Ser | |
| NM_002334.3:c.3557G>C | NP_002325.2:p.Trp1186Ser | |
| XM_011520102.1:c.3770G>C | XP_011518404.1:p.Trp1257Ser | |
| XM_011520103.1:c.2753G>C | XP_011518405.1:p.Trp918Ser | |
| XM_011520104.1:c.1322G>C | XP_011518406.1:p.Trp441Ser | |
| XM_011520103.2:c.2753G>C | XP_011518405.1:p.Trp918Ser | |
| XM_011520104.2:c.1322G>C | XP_011518406.1:p.Trp441Ser | |
| XM_017017734.1:c.3557G>C | XP_016873223.1:p.Trp1186Ser | |
| NM_002334.4:c.3557G>C MANE Select | NP_002325.2:p.Trp1186Ser |