Revel Score:
ENST00000155840 (MANE Select)
0.493
ENST00000335475
0.493
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00041383 (AFR)
Genomes Max Group AF
0.00028001 (AFR)
Exomes Max Group AF
0.00046955 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2588849G>C , CM000673.2:g.2588849G>C | GRCh38 |
| NC_000011.9:g.2610079G>C , CM000673.1:g.2610079G>C | GRCh37 |
| NC_000011.8:g.2566655G>C | NCBI36 |
| NG_008935.1:g.148859G>C , LRG_287:g.148859G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1031G>C | ENSP00000434560.2:p.Ser344Thr | |
| ENST00000646564.2:c.848G>C | ENSP00000495806.2:p.Ser283Thr | |
| ENST00000155840.12:c.1388G>C MANE Select | ENSP00000155840.2:p.Ser463Thr | |
| ENST00000335475.6:c.1007G>C | ENSP00000334497.5:p.Ser336Thr | |
| ENST00000646564.1:c.494G>C | ENSP00000495806.1:p.Ser165Thr | |
| ENST00000155840.9:c.1388G>C | ENSP00000155840.2:p.Ser463Thr | |
| ENST00000335475.5:c.1007G>C | ENSP00000334497.5:p.Ser336Thr | |
| NM_000218.2:c.1388G>C , LRG_287t1:c.1388G>C | NP_000209.2:p.Ser463Thr | |
| NM_181798.1:c.1007G>C , LRG_287t2:c.1007G>C | NP_861463.1:p.Ser336Thr | |
| NM_000218.3:c.1388G>C MANE Select | NP_000209.2:p.Ser463Thr |