Revel Score:
ENST00000225964 (MANE Select)
0.993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50190334C>A , CM000679.2:g.50190334C>A | GRCh38 |
| NC_000017.10:g.48267695C>A , CM000679.1:g.48267695C>A | GRCh37 |
| NC_000017.9:g.45622694C>A | NCBI36 |
| NG_007400.1:g.16306G>T , LRG_1:g.16306G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.2444G>T MANE Select | ENSP00000225964.6:p.Gly815Val | |
| ENST00000225964.9:c.2444G>T | ENSP00000225964.5:p.Gly815Val | |
| ENST00000494334.1:n.371G>T | ||
| NM_000088.3:c.2444G>T , LRG_1t1:c.2444G>T | NP_000079.2:p.Gly815Val | |
| XM_005257058.3:c.2444G>T | XP_005257115.2:p.Gly815Val | |
| XM_005257059.3:c.1526G>T | XP_005257116.2:p.Gly509Val | |
| XM_011524341.1:c.2246G>T | XP_011522643.1:p.Gly749Val | |
| XM_005257058.4:c.2444G>T | XP_005257115.2:p.Gly815Val | |
| XM_005257059.4:c.1526G>T | XP_005257116.2:p.Gly509Val | |
| NM_000088.4:c.2444G>T MANE Select | NP_000079.2:p.Gly815Val |