Revel Score:
ENST00000381340 (MANE Select)
0.239
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26631917G>C , CM000674.2:g.26631917G>C | GRCh38 |
| NC_000012.11:g.26784850G>C , CM000674.1:g.26784850G>C | GRCh37 |
| NC_000012.10:g.26676117G>C | NCBI36 |
| NG_042142.1:g.206282C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381340.8:c.2883C>G MANE Select | ENSP00000370744.3:p.His961Gln | |
| ENST00000381340.7:c.2883C>G | ENSP00000370744.3:p.His961Gln | |
| NM_002223.2:c.2883C>G | NP_002214.2:p.His961Gln | |
| NM_002223.3:c.2883C>G | NP_002214.2:p.His961Gln | |
| XM_011520645.1:c.2331C>G | XP_011518947.1:p.His777Gln | |
| XM_011520646.1:c.1950C>G | XP_011518948.1:p.His650Gln | |
| XR_931288.1:n.3299C>G | ||
| XM_017019266.1:c.2943C>G | XP_016874755.1:p.His981Gln | |
| XM_017019267.1:c.2877C>G | XP_016874756.1:p.His959Gln | |
| XM_017019269.2:c.2943C>G | XP_016874758.1:p.His981Gln | |
| XR_001748686.2:n.3359C>G | ||
| XR_001748687.1:n.3359C>G | ||
| NM_002223.4:c.2883C>G MANE Select | NP_002214.2:p.His961Gln |