Revel Score:
ENST00000412585 (MANE Select)
0.187
ENST00000428231
0.187
ENST00000452596
0.187
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355426A>T , CM000668.2:g.31355426A>T | GRCh38 |
| NC_000006.11:g.31323203A>T , CM000668.1:g.31323203A>T | GRCh37 |
| NC_000006.10:g.31431182A>T | NCBI36 |
| NG_023187.1:g.6787T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.2833T>A | ||
| ENST00000481849.6:n.2259T>A | ||
| ENST00000497377.6:n.2259T>A | ||
| ENST00000640094.2:c.786T>A | ENSP00000491275.2:p.Asp262Glu | |
| ENST00000696558.1:c.855T>A | ENSP00000512716.1:n.855T>A | |
| ENST00000696559.1:c.786T>A | ENSP00000512717.1:p.Asp262Glu | |
| ENST00000696560.1:c.786T>A | ENSP00000512718.1:p.Asp262Glu | |
| ENST00000696561.1:c.786T>A | ENSP00000512719.1:p.Asp262Glu | |
| ENST00000696562.1:c.786T>A | ENSP00000512720.1:p.Asp262Glu | |
| ENST00000412585.7:c.786T>A MANE Select | ENSP00000399168.2:p.Asp262Glu | |
| ENST00000412585.6:c.786T>A | ENSP00000399168.2:p.Asp262Glu | |
| ENST00000463574.1:n.377T>A | ||
| ENST00000498007.1:n.1052T>A | ||
| NM_005514.6:c.786T>A | NP_005505.2:p.Asp262Glu | |
| XM_011514556.1:c.819T>A | XP_011512858.1:p.Asp273Glu | |
| XM_011514557.1:c.786T>A | XP_011512859.1:p.Asp262Glu | |
| XR_926175.1:n.1225T>A | ||
| NM_005514.7:c.786T>A | NP_005505.2:p.Asp262Glu | |
| NM_005514.8:c.786T>A MANE Select | NP_005505.2:p.Asp262Glu |