Revel Score:
ENST00000225964 (MANE Select)
0.980
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188619C>T , CM000679.2:g.50188619C>T | GRCh38 |
| NC_000017.10:g.48265980C>T , CM000679.1:g.48265980C>T | GRCh37 |
| NC_000017.9:g.45620979C>T | NCBI36 |
| NG_007400.1:g.18021G>A , LRG_1:g.18021G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3118G>A MANE Select | ENSP00000225964.6:p.Gly1040Ser | |
| ENST00000225964.9:c.3118G>A | ENSP00000225964.5:p.Gly1040Ser | |
| ENST00000511732.1:n.62G>A | ||
| NM_000088.3:c.3118G>A , LRG_1t1:c.3118G>A | NP_000079.2:p.Gly1040Ser | |
| XM_005257058.3:c.2848G>A | XP_005257115.2:p.Gly950Ser | |
| XM_005257059.3:c.2200G>A | XP_005257116.2:p.Gly734Ser | |
| XM_011524341.1:c.2920G>A | XP_011522643.1:p.Gly974Ser | |
| XM_005257058.4:c.2848G>A | XP_005257115.2:p.Gly950Ser | |
| XM_005257059.4:c.2200G>A | XP_005257116.2:p.Gly734Ser | |
| NM_000088.4:c.3118G>A MANE Select | NP_000079.2:p.Gly1040Ser |