Revel Score:
ENST00000399503 (MANE Select)
0.244
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56881616G>C , CM000667.2:g.56881616G>C | GRCh38 |
| NC_000005.9:g.56177443G>C , CM000667.1:g.56177443G>C | GRCh37 |
| NC_000005.8:g.56213200G>C | NCBI36 |
| NG_031884.1:g.71544G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.2416G>C MANE Select | ENSP00000382423.3:p.Asp806His | |
| ENST00000399503.3:c.2416G>C | ENSP00000382423.3:p.Asp806His | |
| NM_005921.1:c.2416G>C | NP_005912.1:p.Asp806His | |
| XM_005248519.3:c.2038G>C | XP_005248576.2:p.Asp680His | |
| XM_011543406.1:c.2161G>C | XP_011541708.1:p.Asp721His | |
| XM_011543407.1:c.2137G>C | XP_011541709.1:p.Asp713His | |
| XM_011543408.1:c.2416G>C | XP_011541710.1:p.Asp806His | |
| XM_017009484.1:c.2005G>C | XP_016864973.1:p.Asp669His | |
| XM_017009485.1:c.1927G>C | XP_016864974.1:p.Asp643His | |
| XR_001742068.2:n.2447G>C | ||
| NM_005921.2:c.2416G>C MANE Select | NP_005912.1:p.Asp806His |