Revel Score:
ENST00000353479
0.221
ENST00000369733
0.221
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002585 (NFE)
Exomes Max Group AF
0.00002711 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104050642T>A , CM000672.2:g.104050642T>A | GRCh38 |
| NC_000010.10:g.105810400T>A , CM000672.1:g.105810400T>A | GRCh37 |
| NC_000010.9:g.105800390T>A | NCBI36 |
| NG_007069.1:g.40239A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.2107A>T | ENSP00000358748.3:p.Met703Leu | |
| ENST00000648076.2:c.2107A>T MANE Select | ENSP00000497653.1:p.Met703Leu | |
| ENST00000353479.9:c.2107A>T | ENSP00000340937.5:p.Met703Leu | |
| ENST00000369733.7:c.2107A>T | ENSP00000358748.3:p.Met703Leu | |
| NM_000494.3:c.2107A>T | NP_000485.3:p.Met703Leu | |
| NM_000494.4:c.2107A>T MANE Select | NP_000485.3:p.Met703Leu |