Revel Score:
ENST00000340855 (MANE Select)
0.931
ENST00000541269
0.931
ENST00000370441
0.931
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149490385C>T , CM000685.2:g.149490385C>T | GRCh38 |
| NC_000023.10:g.148571916C>T , CM000685.1:g.148571916C>T | GRCh37 |
| NC_000023.9:g.148379821C>T | NCBI36 |
| NG_011900.3:g.19950G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.935G>A MANE Select | ENSP00000339801.6:p.Gly312Asp | |
| ENST00000651111.1:c.302G>A | ENSP00000498395.1:p.Gly101Asp | |
| ENST00000340855.10:c.935G>A | ENSP00000339801.6:p.Gly312Asp | |
| ENST00000370441.8:c.935G>A | ENSP00000359470.4:p.Gly312Asp | |
| ENST00000422081.6:c.302G>A | ENSP00000477056.1:p.Gly101Asp | |
| ENST00000441880.1:n.114-3287G>A | ||
| ENST00000464251.5:c.861G>A | ENSP00000428980.1:n.861G>A | |
| ENST00000466323.5:c.*126G>A | ENSP00000418264.1:n.*126G>A | |
| ENST00000490775.5:n.720G>A | ||
| NM_000202.6:c.935G>A | NP_000193.1:p.Gly312Asp | |
| NM_001166550.2:c.665G>A | NP_001160022.1:p.Gly222Asp | |
| NM_006123.4:c.935G>A | NP_006114.1:p.Gly312Asp | |
| NR_104128.1:n.1282G>A | ||
| NM_000202.7:c.935G>A | NP_000193.1:p.Gly312Asp | |
| NM_001166550.3:c.665G>A | NP_001160022.1:p.Gly222Asp | |
| NM_000202.8:c.935G>A MANE Select | NP_000193.1:p.Gly312Asp | |
| NM_001166550.4:c.665G>A | NP_001160022.1:p.Gly222Asp | |
| NM_006123.5:c.935G>A | NP_006114.1:p.Gly312Asp | |
| NR_104128.2:n.1234G>A |