Revel Score:
ENST00000350028 (MANE Select)
0.123
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43973257A>C , CM000684.2:g.43973257A>C | GRCh38 |
| NC_000022.10:g.44369137A>C , CM000684.1:g.44369137A>C | GRCh37 |
| NC_000022.9:g.42700470A>C | NCBI36 |
| NG_029057.1:g.22877A>C | |
| NG_029057.2:g.22877A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350028.5:c.582A>C MANE Select | ENSP00000345445.4:p.Lys194Asn | |
| ENST00000350028.4:c.582A>C | ENSP00000345445.4:p.Lys194Asn | |
| ENST00000493161.1:n.764A>C | ||
| NM_015380.4:c.582A>C | NP_056195.3:p.Lys194Asn | |
| NM_015380.5:c.582A>C MANE Select | NP_056195.3:p.Lys194Asn |