Revel Score:
ENST00000262948 (MANE Select)
0.808
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117551A>C , CM000681.2:g.4117551A>C | GRCh38 |
| NC_000019.9:g.4117549A>C , CM000681.1:g.4117549A>C | GRCh37 |
| NC_000019.8:g.4068549A>C | NCBI36 |
| NG_007996.1:g.11578T>G , LRG_750:g.11578T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.610T>G | ||
| ENST00000687128.1:n.610T>G | ||
| ENST00000262948.10:c.171T>G MANE Select | ENSP00000262948.4:p.Phe57Leu | |
| ENST00000262948.9:c.171T>G | ENSP00000262948.3:p.Phe57Leu | |
| ENST00000394867.8:c.-121T>G | ENSP00000378336.1:n.-121T>G | |
| ENST00000599345.1:n.368T>G | ||
| NM_030662.3:c.171T>G , LRG_750t1:c.171T>G | NP_109587.1:p.Phe57Leu | |
| XM_006722799.2:c.171T>G | XP_006722862.1:p.Phe57Leu | |
| XM_017026989.1:c.171T>G | XP_016882478.1:p.Phe57Leu | |
| XM_017026990.1:c.171T>G | XP_016882479.1:p.Phe57Leu | |
| XM_017026991.1:c.171T>G | XP_016882480.1:p.Phe57Leu | |
| NM_030662.4:c.171T>G MANE Select | NP_109587.1:p.Phe57Leu |