Revel Score:
ENST00000284601 (MANE Select)
0.011
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.113878447A>C , CM000669.2:g.113878447A>C | GRCh38 |
| NC_000007.13:g.113518502A>C , CM000669.1:g.113518502A>C | GRCh37 |
| NC_000007.12:g.113305738A>C | NCBI36 |
| NG_012116.1:g.45581T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284601.4:c.2645T>G MANE Select | ENSP00000284601.3:p.Leu882Arg | |
| ENST00000284601.3:c.2645T>G | ENSP00000284601.3:p.Leu882Arg | |
| NM_002711.3:c.2645T>G | NP_002702.2:p.Leu882Arg | |
| XM_005250473.2:c.2042T>G | XP_005250530.1:p.Leu681Arg | |
| XM_005250473.3:c.2042T>G | XP_005250530.1:p.Leu681Arg | |
| NM_002711.4:c.2645T>G MANE Select | NP_002702.2:p.Leu882Arg |