Revel Score:
ENST00000225964 (MANE Select)
0.975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188149C>T , CM000679.2:g.50188149C>T | GRCh38 |
| NC_000017.10:g.48265510C>T , CM000679.1:g.48265510C>T | GRCh37 |
| NC_000017.9:g.45620509C>T | NCBI36 |
| NG_007400.1:g.18491G>A , LRG_1:g.18491G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3208G>A MANE Select | ENSP00000225964.6:p.Gly1070Ser | |
| ENST00000225964.9:c.3208G>A | ENSP00000225964.5:p.Gly1070Ser | |
| ENST00000486572.1:n.406G>A | ||
| ENST00000511732.1:n.532G>A | ||
| NM_000088.3:c.3208G>A , LRG_1t1:c.3208G>A | NP_000079.2:p.Gly1070Ser | |
| XM_005257058.3:c.2938G>A | XP_005257115.2:p.Gly980Ser | |
| XM_005257059.3:c.2290G>A | XP_005257116.2:p.Gly764Ser | |
| XM_011524341.1:c.3010G>A | XP_011522643.1:p.Gly1004Ser | |
| XM_005257058.4:c.2938G>A | XP_005257115.2:p.Gly980Ser | |
| XM_005257059.4:c.2290G>A | XP_005257116.2:p.Gly764Ser | |
| NM_000088.4:c.3208G>A MANE Select | NP_000079.2:p.Gly1070Ser |