Revel Score:
ENST00000282516 (MANE Select)
0.461
ENST00000448238
0.461
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36984701A>T , CM000667.2:g.36984701A>T | GRCh38 |
| NC_000005.9:g.36984803A>T , CM000667.1:g.36984803A>T | GRCh37 |
| NC_000005.8:g.37020560A>T | NCBI36 |
| NG_006987.1:g.112819A>T | |
| NG_006987.2:g.112819A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.1521A>T MANE Select | ENSP00000282516.8:p.Gln507His | |
| ENST00000652901.1:c.1521A>T | ENSP00000499536.1:p.Gln507His | |
| ENST00000282516.12:c.1521A>T | ENSP00000282516.8:p.Gln507His | |
| ENST00000448238.2:c.1521A>T | ENSP00000406266.2:p.Gln507His | |
| ENST00000504430.5:n.1141A>T | ||
| ENST00000621733.1:c.1-79877A>T | ENSP00000480694.1:n.1-79877A>T | |
| NM_015384.4:c.1521A>T | NP_056199.2:p.Gln507His | |
| NM_133433.3:c.1521A>T | NP_597677.2:p.Gln507His | |
| XM_005248280.2:c.1521A>T | XP_005248337.1:p.Gln507His | |
| XM_005248282.3:c.777A>T | XP_005248339.2:p.Gln259His | |
| XM_006714467.2:c.1521A>T | XP_006714530.1:p.Gln507His | |
| XM_006714468.1:c.1521A>T | XP_006714531.1:p.Gln507His | |
| XM_011514014.1:c.1521A>T | XP_011512316.1:p.Gln507His | |
| XM_011514015.1:c.1521A>T | XP_011512317.1:p.Gln507His | |
| XM_005248280.3:c.1521A>T | XP_005248337.1:p.Gln507His | |
| XM_005248282.5:c.861A>T | XP_005248339.3:p.Gln287His | |
| XM_006714468.2:c.1521A>T | XP_006714531.1:p.Gln507His | |
| XM_017009329.1:c.1521A>T | XP_016864818.1:p.Gln507His | |
| XM_017009330.2:c.-97A>T | XP_016864819.1:n.-97A>T | |
| XM_017009331.1:c.1495+8299A>T | XP_016864820.1:n.1495+8299A>T | |
| NM_133433.4:c.1521A>T MANE Select | NP_597677.2:p.Gln507His | |
| NM_015384.5:c.1521A>T | NP_056199.2:p.Gln507His |