Revel Score:
ENST00000553106 (MANE Select)
0.769
ENST00000307000
0.769
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840416C>A , CM000674.2:g.102840416C>A | GRCh38 |
| NC_000012.11:g.103234194C>A , CM000674.1:g.103234194C>A | GRCh37 |
| NC_000012.10:g.101758324C>A | NCBI36 |
| NG_008690.1:g.82187G>T | |
| NG_008690.2:g.122995G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1299G>T MANE Select | ENSP00000448059.1:p.Leu433Phe | |
| ENST00000307000.7:c.1284G>T | ENSP00000303500.2:p.Leu428Phe | |
| ENST00000551114.2:n.961G>T | ||
| ENST00000553106.5:c.1299G>T | ENSP00000448059.1:p.Leu433Phe | |
| ENST00000635477.1:c.403G>T | ||
| ENST00000635528.1:n.814G>T | ||
| NM_000277.1:c.1299G>T | NP_000268.1:p.Leu433Phe | |
| XM_011538422.1:c.1242G>T | XP_011536724.1:p.Leu414Phe | |
| NM_000277.2:c.1299G>T | NP_000268.1:p.Leu433Phe | |
| NM_001354304.1:c.1299G>T | NP_001341233.1:p.Leu433Phe | |
| NM_000277.3:c.1299G>T MANE Select | NP_000268.1:p.Leu433Phe | |
| NM_001354304.2:c.1299G>T | NP_001341233.1:p.Leu433Phe |