Revel Score:
ENST00000392332
0.871
ENST00000359678 (MANE Select)
0.871
ENST00000409934
0.871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190294563G>T , CM000664.2:g.190294563G>T | GRCh38 |
| NC_000002.11:g.191159289G>T , CM000664.1:g.191159289G>T | GRCh37 |
| NC_000002.10:g.190867534G>T | NCBI36 |
| NG_017062.1:g.30483C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359678.10:c.287C>A MANE Select | ENSP00000352706.5:p.Ala96Asp | |
| ENST00000359678.9:c.287C>A | ENSP00000352706.5:p.Ala96Asp | |
| ENST00000392332.7:c.287C>A | ENSP00000376144.3:p.Ala96Asp | |
| ENST00000409934.1:c.449C>A | ENSP00000387247.1:p.Ala150Asp | |
| ENST00000622246.4:c.272C>A | ENSP00000481055.1:p.Ala91Asp | |
| NM_014362.3:c.287C>A | NP_055177.2:p.Ala96Asp | |
| NM_198047.2:c.287C>A | NP_932164.1:p.Ala96Asp | |
| XM_011510953.1:c.287C>A | XP_011509255.1:p.Ala96Asp | |
| XR_922903.1:n.531C>A | ||
| XM_011510953.2:c.287C>A | XP_011509255.1:p.Ala96Asp | |
| XR_922903.2:n.350C>A | ||
| NM_014362.4:c.287C>A MANE Select | NP_055177.2:p.Ala96Asp | |
| NM_198047.3:c.287C>A | NP_932164.1:p.Ala96Asp |