Revel Score:
ENST00000335295 (MANE Select)
0.784
ENST00000380315
0.784
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226712C>G , CM000673.2:g.5226712C>G | GRCh38 |
| NC_000011.9:g.5247942C>G , CM000673.1:g.5247942C>G | GRCh37 |
| NC_000011.8:g.5204518C>G | NCBI36 |
| NG_000007.3:g.70904G>C | |
| NG_059281.1:g.5360G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.180G>C | ENSP00000494175.1:p.Lys60Asn | |
| ENST00000335295.4:c.180G>C MANE Select | ENSP00000333994.3:p.Lys60Asn | |
| ENST00000380315.2:c.180G>C | ENSP00000369671.2:p.Lys60Asn | |
| ENST00000475226.1:n.112G>C | ||
| ENST00000485743.1:n.231G>C | ||
| ENST00000633227.1:c.164G>C | ENSP00000488004.1:p.Arg55Thr | |
| NM_000518.4:c.180G>C | NP_000509.1:p.Lys60Asn | |
| NM_000518.5:c.180G>C MANE Select | NP_000509.1:p.Lys60Asn |