Revel Score:
ENST00000540732
0.984
ENST00000269980 (MANE Select)
0.984
ENST00000457836
0.984
ENST00000378196
0.984
ENST00000541315
0.935
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41410981A>G , CM000681.2:g.41410981A>G | GRCh38 |
| NC_000019.9:g.41916886A>G , CM000681.1:g.41916886A>G | GRCh37 |
| NC_000019.8:g.46608726A>G | NCBI36 |
| NG_013004.1:g.18193A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.347A>G MANE Select | ENSP00000269980.2:p.Asp116Gly | |
| ENST00000269980.6:c.347A>G | ENSP00000269980.2:p.Asp116Gly | |
| ENST00000457836.6:c.281A>G | ENSP00000416000.2:p.Asp94Gly | |
| ENST00000538423.5:n.473A>G | ||
| ENST00000540732.3:c.449A>G | ENSP00000443246.1:p.Asp150Gly | |
| ENST00000541315.1:c.154A>G | ||
| ENST00000542943.5:c.288+165A>G | ENSP00000440345.1:n.288+165A>G | |
| ENST00000595085.5:c.347A>G | ENSP00000471150.2:p.Asp116Gly | |
| NM_000709.3:c.347A>G | NP_000700.1:p.Asp116Gly | |
| NM_001164783.1:c.347A>G | NP_001158255.1:p.Asp116Gly | |
| NM_000709.4:c.347A>G MANE Select | NP_000700.1:p.Asp116Gly | |
| NM_001164783.2:c.347A>G | NP_001158255.1:p.Asp116Gly |