Revel Score:
ENST00000344938
0.354
ENST00000310917
0.354
ENST00000344408 (MANE Select)
0.354
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00700702 (NFE)
Genomes Max Group AF
0.00670478 (NFE)
Exomes Max Group AF
0.00699705 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5640620G>C , CM000666.2:g.5640620G>C | GRCh38 |
| NC_000004.11:g.5642347G>C , CM000666.1:g.5642347G>C | GRCh37 |
| NC_000004.10:g.5693248G>C | NCBI36 |
| NG_015821.1:g.73929C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.1364C>G MANE Select | ENSP00000342144.5:p.Thr455Arg | |
| ENST00000310917.6:c.1124C>G | ENSP00000311683.2:p.Thr375Arg | |
| ENST00000344408.9:c.1364C>G | ENSP00000342144.5:p.Thr455Arg | |
| ENST00000475313.5:c.1124C>G | ENSP00000431981.1:p.Thr375Arg | |
| ENST00000509670.1:c.1124C>G | ENSP00000423876.1:p.Thr375Arg | |
| NM_001166136.1:c.1124C>G | NP_001159608.1:p.Thr375Arg | |
| NM_147127.4:c.1364C>G | NP_667338.3:p.Thr455Arg | |
| XM_011513392.1:c.1364C>G | XP_011511694.1:p.Thr455Arg | |
| XM_011513393.1:c.1364C>G | XP_011511695.1:p.Thr455Arg | |
| XM_011513394.1:c.1124C>G | XP_011511696.1:p.Thr375Arg | |
| XM_017007736.1:c.1124C>G | XP_016863225.1:p.Thr375Arg | |
| XM_017007737.1:c.1124C>G | XP_016863226.1:p.Thr375Arg | |
| XM_017007738.1:c.1364C>G | XP_016863227.1:p.Thr455Arg | |
| XM_017007739.1:c.-309C>G | XP_016863228.1:n.-309C>G | |
| XM_024453893.1:c.-413C>G | XP_024309661.1:n.-413C>G | |
| XR_001741141.1:n.1429C>G | ||
| NM_147127.5:c.1364C>G MANE Select | NP_667338.3:p.Thr455Arg | |
| NM_001166136.2:c.1124C>G | NP_001159608.1:p.Thr375Arg |