Revel Score:
ENST00000252244 (MANE Select)
0.277
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675230T>G , CM000674.2:g.52675230T>G | GRCh38 |
| NC_000012.11:g.53069014T>G , CM000674.1:g.53069014T>G | GRCh37 |
| NC_000012.10:g.51355281T>G | NCBI36 |
| NG_008364.1:g.10178A>C | |
| NG_008364.2:g.10178A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1898A>C MANE Select | ENSP00000252244.3:p.Lys633Thr | |
| NM_006121.3:c.1898A>C | NP_006112.3:p.Lys633Thr | |
| NM_006121.4:c.1898A>C MANE Select | NP_006112.3:p.Lys633Thr |