Revel Score:
ENST00000374369 (MANE Select)
0.636
ENST00000374372
0.636
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35437412T>G , CM000682.2:g.35437412T>G | GRCh38 |
| NC_000020.10:g.34025192T>G , CM000682.1:g.34025192T>G | GRCh37 |
| NC_000020.9:g.33488606T>G | NCBI36 |
| NG_008076.2:g.5808A>C | |
| NG_008076.3:g.22335A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374369.8:c.517A>C MANE Select | ENSP00000363489.3:p.Met173Leu | |
| ENST00000374369.7:c.517A>C | ENSP00000363489.3:p.Met173Leu | |
| ENST00000374372.1:c.517A>C | ENSP00000363492.1:p.Met173Leu | |
| NM_000557.4:c.517A>C | NP_000548.2:p.Met173Leu | |
| XM_011529075.1:c.517A>C | XP_011527377.1:p.Met173Leu | |
| XM_011529076.1:c.517A>C | XP_011527378.1:p.Met173Leu | |
| NM_001319138.1:c.517A>C | NP_001306067.1:p.Met173Leu | |
| NM_000557.5:c.517A>C MANE Select | NP_000548.2:p.Met173Leu | |
| NM_001319138.2:c.517A>C | NP_001306067.1:p.Met173Leu |