Revel Score:
ENST00000272371 (MANE Select)
0.897
ENST00000403946
0.897
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000122 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001175 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26482441A>G , CM000664.2:g.26482441A>G | GRCh38 |
| NC_000002.11:g.26705309A>G , CM000664.1:g.26705309A>G | GRCh37 |
| NC_000002.10:g.26558813A>G | NCBI36 |
| NG_009937.1:g.81258T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1544T>C MANE Select | ENSP00000272371.2:p.Ile515Thr | |
| ENST00000272371.6:c.1544T>C | ENSP00000272371.2:p.Ile515Thr | |
| ENST00000403946.7:c.1544T>C | ENSP00000385255.3:p.Ile515Thr | |
| NM_001287489.1:c.1544T>C | NP_001274418.1:p.Ile515Thr | |
| NM_194248.2:c.1544T>C | NP_919224.1:p.Ile515Thr | |
| XM_005264644.2:c.1589T>C | XP_005264701.1:p.Ile530Thr | |
| XM_011533185.1:c.1589T>C | XP_011531487.1:p.Ile530Thr | |
| XM_017005338.1:c.1544T>C | XP_016860827.1:p.Ile515Thr | |
| NM_001287489.2:c.1544T>C | NP_001274418.1:p.Ile515Thr | |
| NM_194248.3:c.1544T>C MANE Select | NP_919224.1:p.Ile515Thr |