MyVariant.info:
GRCh37
chr11:g.102587062G>T
Revel Score:
ENST00000438475
0.087
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102716331G>T , CM000673.2:g.102716331G>T | GRCh38 |
| NC_000011.9:g.102587062G>T , CM000673.1:g.102587062G>T | GRCh37 |
| NC_000011.8:g.102092272G>T | NCBI36 |
| NG_012101.1:g.13624C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236826.8:c.873C>A MANE Select | ENSP00000236826.3:p.Leu291= | |
| ENST00000236826.7:c.873C>A | ENSP00000236826.3:p.Leu291= | |
| ENST00000438475.2:c.799C>A | ||
| ENST00000528662.6:c.*850C>A | ENSP00000431431.2:n.*850C>A | |
| NM_001304441.1:c.804C>A | NP_001291370.1:p.Leu268= | |
| NM_001304442.1:c.804C>A | NP_001291371.1:p.Leu268= | |
| NM_002424.2:c.873C>A | NP_002415.1:p.Leu291= | |
| XM_011542834.1:c.900C>A | XP_011541136.1:p.Leu300= | |
| XM_011542835.1:c.804C>A | XP_011541137.1:p.Leu268= | |
| XM_011542836.1:c.900C>A | XP_011541138.1:p.Leu300= | |
| XM_011542834.2:c.900C>A | XP_011541136.1:p.Leu300= | |
| XM_011542835.2:c.804C>A | XP_011541137.1:p.Leu268= | |
| XM_011542836.2:c.900C>A | XP_011541138.1:p.Leu300= | |
| XM_017017771.1:c.804C>A | XP_016873260.1:p.Leu268= | |
| NM_002424.3:c.873C>A MANE Select | NP_002415.1:p.Leu291= | |
| NM_001304441.2:c.804C>A | NP_001291370.1:p.Leu268= | |
| NM_001304442.2:c.804C>A | NP_001291371.1:p.Leu268= |