Revel Score:
ENST00000520959
0.979
ENST00000311322
0.979
ENST00000538071
0.979
ENST00000535763
0.979
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954126A>G , CM000670.2:g.19954126A>G | GRCh38 |
| NC_000008.10:g.19811637A>G , CM000670.1:g.19811637A>G | GRCh37 |
| NC_000008.9:g.19855917A>G | NCBI36 |
| NG_008855.1:g.20056A>G | |
| NG_008855.2:g.57410A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.548A>G MANE Select | ENSP00000497642.1:p.Asp183Gly | |
| ENST00000311322.8:c.548A>G | ENSP00000309757.6:p.Asp183Gly | |
| ENST00000520959.5:c.320A>G | ENSP00000428496.1:p.Asp107Gly | |
| NM_000237.2:c.548A>G | NP_000228.1:p.Asp183Gly | |
| NM_000237.3:c.548A>G MANE Select | NP_000228.1:p.Asp183Gly |