Revel Score:
ENST00000360608
0.199
ENST00000389970
0.199
ENST00000413640
0.199
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42129162G>A , CM000684.2:g.42129162G>A | GRCh38 |
| NC_000022.10:g.42525164G>A , CM000684.1:g.42525164G>A | GRCh37 |
| NC_000022.9:g.40855108G>A | NCBI36 |
| NG_008376.3:g.5830C>T | |
| NG_008376.4:g.6649C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.353-218C>T | ENSP00000353241.6:n.353-218C>T | |
| ENST00000645361.2:c.376C>T MANE Select | ENSP00000496150.1:p.Pro126Ser | |
| ENST00000359033.4:c.353-218C>T | ENSP00000351927.4:n.353-218C>T | |
| ENST00000360124.9:c.173-218C>T | ENSP00000353241.5:n.173-218C>T | |
| ENST00000360608.9:c.376C>T | ENSP00000353820.5:p.Pro126Ser | |
| ENST00000389970.7:c.310C>T | ENSP00000374620.4:p.Pro104Ser | |
| ENST00000488442.1:n.1100C>T | ||
| NM_000106.5:c.376C>T | NP_000097.3:p.Pro126Ser | |
| NM_001025161.2:c.353-218C>T | NP_001020332.2:n.353-218C>T | |
| XM_011529966.1:c.376C>T | XP_011528268.1:p.Pro126Ser | |
| XM_011529967.1:c.376C>T | XP_011528269.1:p.Pro126Ser | |
| XM_011529968.1:c.376C>T | XP_011528270.1:p.Pro126Ser | |
| XM_011529969.1:c.233C>T | XP_011528271.1:p.Ala78Val | |
| XM_011529970.1:c.353-218C>T | XP_011528272.1:n.353-218C>T | |
| XM_011529971.1:c.233C>T | XP_011528273.1:p.Ala78Val | |
| XM_011529972.1:c.376C>T | XP_011528274.1:p.Pro126Ser | |
| NM_000106.6:c.376C>T MANE Select | NP_000097.3:p.Pro126Ser | |
| NM_001025161.3:c.353-218C>T | NP_001020332.2:n.353-218C>T |