Revel Score:
ENST00000295754 (MANE Select)
0.900
ENST00000359013
0.900
ENST00000439925
0.900
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30674229G>A , CM000665.2:g.30674229G>A | GRCh38 |
| NC_000003.11:g.30715721G>A , CM000665.1:g.30715721G>A | GRCh37 |
| NC_000003.10:g.30690725G>A | NCBI36 |
| NG_007490.1:g.72728G>A , LRG_779:g.72728G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1379G>A MANE Select | ENSP00000295754.5:p.Arg460His | |
| ENST00000672866.1:n.2975G>A | ||
| ENST00000673203.1:n.257G>A | ||
| ENST00000295754.9:c.1379G>A | ENSP00000295754.5:p.Arg460His | |
| ENST00000359013.4:c.1454G>A | ENSP00000351905.4:p.Arg485His | |
| NM_001024847.2:c.1454G>A , LRG_779t1:c.1454G>A | NP_001020018.1:p.Arg485His | |
| NM_003242.5:c.1379G>A | NP_003233.4:p.Arg460His | |
| XM_011534043.1:c.1406G>A | XP_011532345.1:p.Arg469His | |
| XM_011534044.1:c.1331G>A | XP_011532346.1:p.Arg444His | |
| XM_011534045.1:c.1274G>A | XP_011532347.1:p.Arg425His | |
| XM_011534043.2:c.1406G>A | XP_011532345.1:p.Arg469His | |
| XM_011534045.3:c.1274G>A | XP_011532347.1:p.Arg425His | |
| XM_017007106.1:c.1274G>A | XP_016862595.1:p.Arg425His | |
| NM_003242.6:c.1379G>A MANE Select | NP_003233.4:p.Arg460His |