Revel Score:
ENST00000366647 (MANE Select)
0.195
ENST00000366646
0.195
ENST00000416000
0.195
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231272345A>T , CM000663.2:g.231272345A>T | GRCh38 |
| NC_000001.10:g.231408091A>T , CM000663.1:g.231408091A>T | GRCh37 |
| NC_000001.9:g.229474714A>T | NCBI36 |
| NG_008240.1:g.36173A>T | |
| NG_008240.2:g.36173A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.1556A>T MANE Select | ENSP00000355607.4:p.Asp519Val | |
| ENST00000644483.1:c.*1242A>T | ENSP00000496537.1:n.*1242A>T | |
| ENST00000366647.8:c.1556A>T | ENSP00000355607.4:p.Asp519Val | |
| ENST00000416000.1:c.1526A>T | ENSP00000411640.1:p.Asp509Val | |
| NM_001316350.1:c.1373A>T | NP_001303279.1:p.Asp458Val | |
| NM_014236.3:c.1556A>T | NP_055051.1:p.Asp519Val | |
| XM_005273313.3:c.1553A>T | XP_005273370.1:p.Asp518Val | |
| XM_011544303.1:c.1229A>T | XP_011542605.1:p.Asp410Val | |
| XM_011544304.1:c.1229A>T | XP_011542606.1:p.Asp410Val | |
| XM_005273313.4:c.1553A>T | XP_005273370.1:p.Asp518Val | |
| XM_011544303.3:c.1229A>T | XP_011542605.1:p.Asp410Val | |
| XM_011544304.2:c.1229A>T | XP_011542606.1:p.Asp410Val | |
| NM_014236.4:c.1556A>T MANE Select | NP_055051.1:p.Asp519Val | |
| NM_001316350.2:c.1373A>T | NP_001303279.1:p.Asp458Val |