Revel Score:
ENST00000200676 (MANE Select)
0.005
ENST00000379780
0.005
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56982180G>C , CM000678.2:g.56982180G>C | GRCh38 |
| NC_000016.9:g.57016092G>C , CM000678.1:g.57016092G>C | GRCh37 |
| NC_000016.8:g.55573593G>C | NCBI36 |
| NG_008952.1:g.25258G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200676.8:c.1264G>C MANE Select | ENSP00000200676.3:p.Val422Leu | |
| ENST00000650358.1:n.1662G>C | ||
| ENST00000200676.7:c.1264G>C | ENSP00000200676.3:p.Val422Leu | |
| ENST00000379780.6:c.1084G>C | ENSP00000369106.2:p.Val362Leu | |
| ENST00000566128.1:c.1069G>C | ENSP00000456276.1:p.Val357Leu | |
| NM_000078.2:c.1264G>C | NP_000069.2:p.Val422Leu | |
| NM_001286085.1:c.1084G>C | NP_001273014.1:p.Val362Leu | |
| NM_000078.3:c.1264G>C MANE Select | NP_000069.2:p.Val422Leu | |
| NM_001286085.2:c.1084G>C | NP_001273014.1:p.Val362Leu |