Revel Score:
ENST00000251020 (MANE Select)
0.128
ENST00000440970
0.128
ENST00000457559
0.128
ENST00000541611
0.128
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.51137264C>G , CM000678.2:g.51137264C>G | GRCh38 |
| NC_000016.9:g.51171175C>G , CM000678.1:g.51171175C>G | GRCh37 |
| NC_000016.8:g.49728676C>G | NCBI36 |
| NG_007990.1:g.19009G>C , LRG_674:g.19009G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440970.6:c.3823G>C | ENSP00000407914.2:p.Val1275Leu | |
| ENST00000570206.2:c.3532G>C | ENSP00000456777.2:p.Val1178Leu | |
| ENST00000685868.1:c.3823G>C | ENSP00000509873.1:p.Val1275Leu | |
| ENST00000251020.9:c.3823G>C MANE Select | ENSP00000251020.4:p.Val1275Leu | |
| ENST00000251020.8:c.3823G>C | ENSP00000251020.4:p.Val1275Leu | |
| ENST00000440970.5:c.3532G>C | ENSP00000407914.1:p.Val1178Leu | |
| ENST00000566102.1:c.365G>C | ENSP00000455582.1:n.365G>C | |
| NM_001127892.1:c.3532G>C | NP_001121364.1:p.Val1178Leu | |
| NM_002968.2:c.3823G>C , LRG_674t1:c.3823G>C | NP_002959.2:p.Val1275Leu | |
| XM_006721241.2:c.3823G>C | XP_006721304.1:p.Val1275Leu | |
| XM_011523254.1:c.3823G>C | XP_011521556.1:p.Val1275Leu | |
| XM_011523255.1:c.3823G>C | XP_011521557.1:p.Val1275Leu | |
| NM_002968.3:c.3823G>C MANE Select | NP_002959.2:p.Val1275Leu | |
| NM_001127892.2:c.3532G>C | NP_001121364.1:p.Val1178Leu |