Revel Score:
ENST00000360608
0.456
ENST00000389970
0.456
ENST00000413640
0.456
ENST00000359033
0.456
ENST00000542856
0.456
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127537A>C , CM000684.2:g.42127537A>C | GRCh38 |
| NC_000022.10:g.42523539A>C , CM000684.1:g.42523539A>C | GRCh37 |
| NC_000022.9:g.40853483A>C | NCBI36 |
| NG_008376.3:g.7455T>G | |
| NG_008376.4:g.8274T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.881T>G | ENSP00000353241.6:n.881T>G | |
| ENST00000645361.2:c.1083T>G MANE Select | ENSP00000496150.1:p.His361Gln | |
| ENST00000359033.4:c.930T>G | ENSP00000351927.4:p.His310Gln | |
| ENST00000360124.9:c.701T>G | ENSP00000353241.5:n.701T>G | |
| ENST00000360608.9:c.1083T>G | ENSP00000353820.5:p.His361Gln | |
| ENST00000389970.7:c.1074T>G | ENSP00000374620.4:p.His358Gln | |
| ENST00000488442.1:n.1807T>G | ||
| NM_000106.5:c.1083T>G | NP_000097.3:p.His361Gln | |
| NM_001025161.2:c.930T>G | NP_001020332.2:p.His310Gln | |
| XM_011529966.1:c.1083T>G | XP_011528268.1:p.His361Gln | |
| XM_011529967.1:c.1083T>G | XP_011528269.1:p.His361Gln | |
| XM_011529968.1:c.1083T>G | XP_011528270.1:p.His361Gln | |
| XM_011529969.1:c.939T>G | XP_011528271.1:p.His313Gln | |
| XM_011529970.1:c.930T>G | XP_011528272.1:p.His310Gln | |
| XM_011529971.1:c.939T>G | XP_011528273.1:p.His313Gln | |
| XM_011529972.1:c.*68T>G | XP_011528274.1:n.*68T>G | |
| NM_000106.6:c.1083T>G MANE Select | NP_000097.3:p.His361Gln | |
| NM_001025161.3:c.930T>G | NP_001020332.2:p.His310Gln |