Revel Score:
ENST00000534663
0.037
ENST00000299440 (MANE Select)
0.037
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36574050A>C , CM000673.2:g.36574050A>C | GRCh38 |
| NC_000011.9:g.36595600A>C , CM000673.1:g.36595600A>C | GRCh37 |
| NC_000011.8:g.36552176A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697713.1:c.746A>C | ENSP00000513411.1:p.His249Pro | |
| ENST00000697714.1:c.746A>C | ENSP00000513412.1:p.His249Pro | |
| ENST00000697715.1:c.746A>C | ENSP00000513413.1:p.His249Pro | |
| ENST00000299440.6:c.746A>C MANE Select | ENSP00000299440.5:p.His249Pro | |
| ENST00000299440.5:c.746A>C | ENSP00000299440.5:p.His249Pro | |
| ENST00000534663.1:c.746A>C | ENSP00000434610.1:p.His249Pro | |
| XM_005253041.3:c.746A>C | XP_005253098.1:p.His249Pro | |
| XM_011520250.1:c.746A>C | XP_011518552.1:p.His249Pro | |
| XM_011520251.1:c.746A>C | XP_011518553.1:p.His249Pro | |
| XM_005253041.4:c.746A>C | XP_005253098.1:p.His249Pro | |
| XM_011520250.2:c.746A>C | XP_011518552.1:p.His249Pro | |
| NM_000448.3:c.746A>C MANE Select | NP_000439.2:p.His249Pro | |
| NM_001377277.1:c.746A>C | NP_001364206.1:p.His249Pro | |
| NM_001377278.1:c.746A>C | NP_001364207.1:p.His249Pro | |
| NM_001377279.1:c.746A>C | NP_001364208.1:p.His249Pro | |
| NM_001377280.1:c.746A>C | NP_001364209.1:p.His249Pro |