Revel Score:
ENST00000366816
0.462
ENST00000366815 (MANE Select)
0.462
ENST00000366813
0.462
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226071431G>A , CM000663.2:g.226071431G>A | GRCh38 |
| NC_000001.10:g.226259132G>A , CM000663.1:g.226259132G>A | GRCh37 |
| NC_000001.9:g.224325755G>A | NCBI36 |
| NG_065173.1:g.13725G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366815.10:c.363G>A MANE Select | ENSP00000355780.3:p.Met121Ile | |
| ENST00000655399.1:c.363G>A | ENSP00000499800.1:p.Met121Ile | |
| ENST00000656829.1:n.185G>A | ||
| ENST00000661429.1:c.363G>A | ENSP00000499385.1:p.Met121Ile | |
| ENST00000666609.1:c.363G>A | ENSP00000499275.1:p.Met121Ile | |
| ENST00000667897.1:c.*8G>A | ENSP00000499446.1:n.*8G>A | |
| ENST00000366813.1:c.363G>A | ENSP00000355778.1:p.Met121Ile | |
| ENST00000366815.7:c.363G>A | ENSP00000355780.3:p.Met121Ile | |
| ENST00000366816.5:c.363G>A | ENSP00000355781.1:p.Met121Ile | |
| NM_002107.4:c.363G>A | NP_002098.1:p.Met121Ile | |
| NM_002107.5:c.363G>A | NP_002098.1:p.Met121Ile | |
| NM_002107.7:c.363G>A MANE Select | NP_002098.1:p.Met121Ile | |
| NM_001379043.1:c.363G>A | NP_001365972.1:p.Met121Ile | |
| NM_001379045.1:c.363G>A | NP_001365974.1:p.Met121Ile | |
| NM_001379046.1:c.363G>A | NP_001365975.1:p.Met121Ile | |
| NM_001379047.1:c.363G>A | NP_001365976.1:p.Met121Ile |