Revel Score:
ENST00000353479
0.220
ENST00000369733
0.220
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104050642T>G , CM000672.2:g.104050642T>G | GRCh38 |
| NC_000010.10:g.105810400T>G , CM000672.1:g.105810400T>G | GRCh37 |
| NC_000010.9:g.105800390T>G | NCBI36 |
| NG_007069.1:g.40239A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.2107A>C | ENSP00000358748.3:p.Met703Leu | |
| ENST00000648076.2:c.2107A>C MANE Select | ENSP00000497653.1:p.Met703Leu | |
| ENST00000353479.9:c.2107A>C | ENSP00000340937.5:p.Met703Leu | |
| ENST00000369733.7:c.2107A>C | ENSP00000358748.3:p.Met703Leu | |
| NM_000494.3:c.2107A>C | NP_000485.3:p.Met703Leu | |
| NM_000494.4:c.2107A>C MANE Select | NP_000485.3:p.Met703Leu |