Revel Score:
ENST00000360608
0.116
ENST00000389970
0.116
ENST00000413640
0.116
ENST00000359033
0.116
ENST00000542856
0.116
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42129809T>G , CM000684.2:g.42129809T>G | GRCh38 |
| NC_000022.10:g.42525811T>G , CM000684.1:g.42525811T>G | GRCh37 |
| NC_000022.9:g.40855755T>G | NCBI36 |
| NG_008376.3:g.5183A>C | |
| NG_008376.4:g.6002A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.281A>C | ENSP00000353241.6:p.His94Pro | |
| ENST00000645361.2:c.281A>C MANE Select | ENSP00000496150.1:p.His94Pro | |
| ENST00000359033.4:c.281A>C | ENSP00000351927.4:p.His94Pro | |
| ENST00000360124.9:c.101A>C | ENSP00000353241.5:p.His34Pro | |
| ENST00000360608.9:c.281A>C | ENSP00000353820.5:p.His94Pro | |
| ENST00000389970.7:c.215A>C | ENSP00000374620.4:p.His72Pro | |
| ENST00000488442.1:n.1005A>C | ||
| NM_000106.5:c.281A>C | NP_000097.3:p.His94Pro | |
| NM_001025161.2:c.281A>C | NP_001020332.2:p.His94Pro | |
| XM_011529966.1:c.281A>C | XP_011528268.1:p.His94Pro | |
| XM_011529967.1:c.281A>C | XP_011528269.1:p.His94Pro | |
| XM_011529968.1:c.281A>C | XP_011528270.1:p.His94Pro | |
| XM_011529969.1:c.138A>C | XP_011528271.1:p.Pro46= | |
| XM_011529970.1:c.281A>C | XP_011528272.1:p.His94Pro | |
| XM_011529971.1:c.138A>C | XP_011528273.1:p.Pro46= | |
| XM_011529972.1:c.281A>C | XP_011528274.1:p.His94Pro | |
| NM_000106.6:c.281A>C MANE Select | NP_000097.3:p.His94Pro | |
| NM_001025161.3:c.281A>C | NP_001020332.2:p.His94Pro |