Revel Score:
ENST00000262367 (MANE Select)
0.746
ENST00000543883
0.746
ENST00000382070
0.746
ENST00000323508
0.746
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729433T>C , CM000678.2:g.3729433T>C | GRCh38 |
| NC_000016.9:g.3779434T>C , CM000678.1:g.3779434T>C | GRCh37 |
| NC_000016.8:g.3719435T>C | NCBI36 |
| NG_009873.1:g.155688A>G | |
| NG_009873.2:g.156281A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5614A>G MANE Select | ENSP00000262367.5:p.Met1872Val | |
| ENST00000262367.9:c.5614A>G | ENSP00000262367.5:p.Met1872Val | |
| ENST00000382070.7:c.5500A>G | ENSP00000371502.3:p.Met1834Val | |
| NM_001079846.1:c.5500A>G | NP_001073315.1:p.Met1834Val | |
| NM_004380.2:c.5614A>G | NP_004371.2:p.Met1872Val | |
| XM_005255124.3:c.5569A>G | XP_005255181.1:p.Met1857Val | |
| XM_005255125.3:c.5197A>G | XP_005255182.1:p.Met1733Val | |
| XM_006720848.2:c.5353A>G | XP_006720911.1:p.Met1785Val | |
| XM_011522380.1:c.5560A>G | XP_011520682.1:p.Met1854Val | |
| XM_011522381.1:c.4861A>G | XP_011520683.1:p.Met1621Val | |
| XM_005255124.4:c.5569A>G | XP_005255181.1:p.Met1857Val | |
| XM_005255125.4:c.5197A>G | XP_005255182.1:p.Met1733Val | |
| XM_006720848.3:c.5353A>G | XP_006720911.1:p.Met1785Val | |
| XM_011522381.2:c.4861A>G | XP_011520683.1:p.Met1621Val | |
| XM_017022944.1:c.5608A>G | XP_016878433.1:p.Met1870Val | |
| NM_004380.3:c.5614A>G MANE Select | NP_004371.2:p.Met1872Val |