Revel Score:
ENST00000360608
0.030
ENST00000389970
0.030
ENST00000359033
0.030
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42130773C>A , CM000684.2:g.42130773C>A | GRCh38 |
| NC_000022.10:g.42526775C>A , CM000684.1:g.42526775C>A | GRCh37 |
| NC_000022.9:g.40856719C>A | NCBI36 |
| NG_008376.3:g.4219G>T | |
| NG_008376.4:g.5038G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.19G>T | ENSP00000353241.6:p.Val7Leu | |
| ENST00000645361.2:c.19G>T MANE Select | ENSP00000496150.1:p.Val7Leu | |
| ENST00000359033.4:c.19G>T | ENSP00000351927.4:p.Val7Leu | |
| ENST00000360608.9:c.19G>T | ENSP00000353820.5:p.Val7Leu | |
| ENST00000389970.7:c.-48G>T | ENSP00000374620.4:n.-48G>T | |
| ENST00000488442.1:n.41G>T | ||
| NM_000106.5:c.19G>T | NP_000097.3:p.Val7Leu | |
| NM_001025161.2:c.19G>T | NP_001020332.2:p.Val7Leu | |
| XM_011529966.1:c.19G>T | XP_011528268.1:p.Val7Leu | |
| XM_011529967.1:c.19G>T | XP_011528269.1:p.Val7Leu | |
| XM_011529968.1:c.19G>T | XP_011528270.1:p.Val7Leu | |
| XM_011529969.1:c.37+524G>T | XP_011528271.1:n.37+524G>T | |
| XM_011529970.1:c.19G>T | XP_011528272.1:p.Val7Leu | |
| XM_011529971.1:c.37+524G>T | XP_011528273.1:n.37+524G>T | |
| XM_011529972.1:c.19G>T | XP_011528274.1:p.Val7Leu | |
| XR_430455.2:n.328+85C>A | ||
| NM_000106.6:c.19G>T MANE Select | NP_000097.3:p.Val7Leu | |
| XR_002958749.1:n.275+85C>A | ||
| NM_001025161.3:c.19G>T | NP_001020332.2:p.Val7Leu |