Revel Score:
ENST00000375128 (MANE Select)
0.870
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011346 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.0001163 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675530T>C , CM000671.2:g.97675530T>C | GRCh38 |
| NC_000009.11:g.100437812T>C , CM000671.1:g.100437812T>C | GRCh37 |
| NC_000009.10:g.99477633T>C | NCBI36 |
| NG_011642.1:g.26880A>G , LRG_471:g.26880A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.731A>G MANE Select | ENSP00000364270.5:p.His244Arg | |
| ENST00000375128.4:c.731A>G | ENSP00000364270.4:p.His244Arg | |
| ENST00000462523.5:c.*167A>G | ENSP00000433006.1:n.*167A>G | |
| ENST00000485042.1:n.243A>G | ||
| NM_000380.3:c.731A>G , LRG_471t1:c.731A>G | NP_000371.1:p.His244Arg | |
| NR_027302.1:n.1079A>G | ||
| XM_006717278.1:c.731A>G | XP_006717341.1:p.His244Arg | |
| XM_011518988.1:c.731A>G | XP_011517290.1:p.His244Arg | |
| XR_929839.1:n.1262A>G | ||
| NM_001354975.1:c.605A>G | NP_001341904.1:p.His202Arg | |
| NR_149091.1:n.576A>G | ||
| NR_149092.1:n.742A>G | ||
| NR_149093.1:n.1268A>G | ||
| NR_149094.1:n.1162A>G | ||
| NM_000380.4:c.731A>G MANE Select | NP_000371.1:p.His244Arg | |
| NM_001354975.2:c.605A>G | NP_001341904.1:p.His202Arg | |
| NR_027302.2:n.1010A>G | ||
| NR_149091.2:n.507A>G | ||
| NR_149092.2:n.673A>G | ||
| NR_149093.2:n.1199A>G | ||
| NR_149094.2:n.1093A>G |