Revel Score:
ENST00000535240
0.467
ENST00000243457 (MANE Select)
0.467
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70176304G>C , CM000679.2:g.70176304G>C | GRCh38 |
| NC_000017.10:g.68172445G>C , CM000679.1:g.68172445G>C | GRCh37 |
| NC_000017.9:g.65684040G>C | NCBI36 |
| NG_008798.1:g.11770G>C , LRG_328:g.11770G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.1265G>C MANE Select | ENSP00000243457.2:p.Arg422Pro | |
| ENST00000243457.3:c.1265G>C | ENSP00000243457.2:p.Arg422Pro | |
| ENST00000535240.1:c.1265G>C | ENSP00000441848.1:p.Arg422Pro | |
| NM_000891.2:c.1265G>C , LRG_328t1:c.1265G>C | NP_000882.1:p.Arg422Pro | |
| XM_011524779.1:c.1265G>C | XP_011523081.1:p.Arg422Pro | |
| NM_000891.3:c.1265G>C MANE Select | NP_000882.1:p.Arg422Pro |