Revel Score:
ENST00000262407 (MANE Select)
0.813
ENST00000353281
0.813
ENST00000377068
0.813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44381019C>T , CM000679.2:g.44381019C>T | GRCh38 |
| NC_000017.10:g.42458387C>T , CM000679.1:g.42458387C>T | GRCh37 |
| NC_000017.9:g.39813913C>T | NCBI36 |
| NG_008331.1:g.13487G>A , LRG_479:g.13487G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.1253G>A MANE Select | ENSP00000262407.5:p.Gly418Asp | |
| ENST00000648408.1:c.684G>A | ||
| ENST00000262407.5:c.1253G>A | ENSP00000262407.5:p.Gly418Asp | |
| ENST00000592226.5:n.493G>A | ||
| ENST00000592462.5:n.48G>A | ||
| NM_000419.3:c.1253G>A , LRG_479t1:c.1253G>A | NP_000410.2:p.Gly418Asp | |
| XM_011524749.1:c.1253G>A | XP_011523051.1:p.Gly418Asp | |
| XM_011524750.1:c.1253G>A | XP_011523052.1:p.Gly418Asp | |
| NM_000419.4:c.1253G>A | NP_000410.2:p.Gly418Asp | |
| NM_000419.5:c.1253G>A MANE Select | NP_000410.2:p.Gly418Asp |