Revel Score:
ENST00000310917
0.128
ENST00000344408 (MANE Select)
0.128
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5563022T>G , CM000666.2:g.5563022T>G | GRCh38 |
| NC_000004.11:g.5564749T>G , CM000666.1:g.5564749T>G | GRCh37 |
| NC_000004.10:g.5615650T>G | NCBI36 |
| NG_015821.1:g.151527A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.3753A>C MANE Select | ENSP00000342144.5:p.Glu1251Asp | |
| ENST00000310917.6:c.3513A>C | ENSP00000311683.2:p.Glu1171Asp | |
| ENST00000344408.9:c.3753A>C | ENSP00000342144.5:p.Glu1251Asp | |
| ENST00000475313.5:c.3419+2236A>C | ENSP00000431981.1:n.3419+2236A>C | |
| ENST00000509670.1:c.*2146A>C | ENSP00000423876.1:n.*2146A>C | |
| NM_001166136.1:c.3513A>C | NP_001159608.1:p.Glu1171Asp | |
| NM_147127.4:c.3753A>C | NP_667338.3:p.Glu1251Asp | |
| XM_011513392.1:c.3762A>C | XP_011511694.1:p.Glu1254Asp | |
| XM_011513393.1:c.3668+2236A>C | XP_011511695.1:n.3668+2236A>C | |
| XM_011513394.1:c.3522A>C | XP_011511696.1:p.Glu1174Asp | |
| XM_017007736.1:c.3513A>C | XP_016863225.1:p.Glu1171Asp | |
| XM_017007737.1:c.3513A>C | XP_016863226.1:p.Glu1171Asp | |
| XM_017007739.1:c.2073A>C | XP_016863228.1:p.Glu691Asp | |
| XM_024453893.1:c.2073A>C | XP_024309661.1:p.Glu691Asp | |
| XR_001741141.1:n.3603A>C | ||
| NM_147127.5:c.3753A>C MANE Select | NP_667338.3:p.Glu1251Asp | |
| NM_001166136.2:c.3513A>C | NP_001159608.1:p.Glu1171Asp |