Revel Score:
ENST00000225964 (MANE Select)
0.982
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188113C>A , CM000679.2:g.50188113C>A | GRCh38 |
| NC_000017.10:g.48265474C>A , CM000679.1:g.48265474C>A | GRCh37 |
| NC_000017.9:g.45620473C>A | NCBI36 |
| NG_007400.1:g.18527G>T , LRG_1:g.18527G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3244G>T MANE Select | ENSP00000225964.6:p.Gly1082Cys | |
| ENST00000225964.9:c.3244G>T | ENSP00000225964.5:p.Gly1082Cys | |
| ENST00000486572.1:n.442G>T | ||
| ENST00000511732.1:n.568G>T | ||
| NM_000088.3:c.3244G>T , LRG_1t1:c.3244G>T | NP_000079.2:p.Gly1082Cys | |
| XM_005257058.3:c.2974G>T | XP_005257115.2:p.Gly992Cys | |
| XM_005257059.3:c.2326G>T | XP_005257116.2:p.Gly776Cys | |
| XM_011524341.1:c.3046G>T | XP_011522643.1:p.Gly1016Cys | |
| XM_005257058.4:c.2974G>T | XP_005257115.2:p.Gly992Cys | |
| XM_005257059.4:c.2326G>T | XP_005257116.2:p.Gly776Cys | |
| NM_000088.4:c.3244G>T MANE Select | NP_000079.2:p.Gly1082Cys |