Revel Score:
ENST00000388962
0.006
ENST00000550948 (MANE Select)
0.006
ENST00000228463
0.006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108624122C>G , CM000674.2:g.108624122C>G | GRCh38 |
| NC_000012.11:g.109017898C>G , CM000674.1:g.109017898C>G | GRCh37 |
| NC_000012.10:g.107542027C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550948.2:c.186G>C MANE Select | ENSP00000447752.1:p.Met62Ile | |
| ENST00000228463.6:c.234G>C | ENSP00000228463.6:p.Met78Ile | |
| ENST00000388962.4:c.186G>C | ENSP00000373614.3:p.Met62Ile | |
| ENST00000550948.1:c.186G>C | ENSP00000447752.1:p.Met62Ile | |
| NM_001206609.1:c.234G>C | NP_001193538.1:p.Met78Ile | |
| NM_003006.4:c.186G>C MANE Select | NP_002997.2:p.Met62Ile | |
| XM_005269076.2:c.186G>C | XP_005269133.1:p.Met62Ile | |
| NM_001206609.2:c.234G>C | NP_001193538.1:p.Met78Ile |