Revel Score:
ENST00000447944 (MANE Select)
0.622
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010586 (NFE)
Genomes Max Group AF
0.00007917 (NFE)
Exomes Max Group AF
0.00010416 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55647357G>C , CM000664.2:g.55647357G>C | GRCh38 |
| NC_000002.11:g.55874492G>C , CM000664.1:g.55874492G>C | GRCh37 |
| NC_000002.10:g.55727996G>C | NCBI36 |
| NG_033012.1:g.51554C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.1592C>G MANE Select | ENSP00000400646.2:p.Thr531Arg | |
| ENST00000260604.8:c.*1147C>G | ENSP00000260604.4:n.*1147C>G | |
| ENST00000415374.5:c.1592C>G | ENSP00000393953.1:p.Thr531Arg | |
| ENST00000447944.6:c.1592C>G | ENSP00000400646.2:p.Thr531Arg | |
| ENST00000481066.1:n.26C>G | ||
| NM_033109.4:c.1592C>G | NP_149100.2:p.Thr531Arg | |
| XM_005264629.1:c.1352C>G | XP_005264686.1:p.Thr451Arg | |
| XM_005264629.2:c.1352C>G | XP_005264686.1:p.Thr451Arg | |
| XM_017005172.1:c.1352C>G | XP_016860661.1:p.Thr451Arg | |
| XR_001739010.1:n.1669C>G | ||
| NM_033109.5:c.1592C>G MANE Select | NP_149100.2:p.Thr531Arg |