Revel Score:
ENST00000394236 (MANE Select)
0.130
ENST00000407433
0.130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93892933C>G , CM000665.2:g.93892933C>G | GRCh38 |
| NC_000003.11:g.93611777C>G , CM000665.1:g.93611777C>G | GRCh37 |
| NC_000003.10:g.95094467C>G | NCBI36 |
| NG_009813.1:g.86158G>C , LRG_572:g.86158G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1155G>C | ENSP00000330021.7:p.Met385Ile | |
| ENST00000394236.9:c.1155G>C MANE Select | ENSP00000377783.3:p.Met385Ile | |
| ENST00000407433.6:c.1110G>C | ENSP00000385794.2:p.Met370Ile | |
| ENST00000647936.1:c.1155G>C | ENSP00000496822.1:p.Met385Ile | |
| ENST00000648381.1:n.1323G>C | ||
| ENST00000648853.1:c.1113G>C | ENSP00000497262.1:p.Met371Ile | |
| ENST00000649103.1:c.1254G>C | ENSP00000497962.1:n.1254G>C | |
| ENST00000650591.1:c.1251G>C | ENSP00000497376.1:p.Met417Ile | |
| ENST00000394236.7:c.1155G>C | ENSP00000377783.3:p.Met385Ile | |
| ENST00000407433.5:c.762G>C | ENSP00000385794.1:p.Met254Ile | |
| NM_000313.3:c.1155G>C , LRG_572t1:c.1155G>C | NP_000304.2:p.Met385Ile | |
| NM_001314077.1:c.1251G>C , LRG_572t2:c.1251G>C | NP_001301006.1:p.Met417Ile | |
| NM_000313.4:c.1155G>C MANE Select | NP_000304.2:p.Met385Ile | |
| NM_001314077.2:c.1251G>C | NP_001301006.1:p.Met417Ile |