Revel Score:
ENST00000271348
0.793
ENST00000369237
0.793
ENST00000430508
0.793
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147758953C>T , CM000663.2:g.147758953C>T | GRCh38 |
| NC_000001.10:g.147231061C>T , CM000663.1:g.147231061C>T | GRCh37 |
| NC_000001.9:g.145697685C>T | NCBI36 |
| NG_009369.2:g.19422G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579774.3:c.286G>A MANE Select | ENSP00000463851.1:p.Ala96Thr | |
| ENST00000430508.1:c.286G>A | ENSP00000407645.1:p.Ala96Thr | |
| ENST00000579774.2:c.286G>A | ENSP00000463851.1:p.Ala96Thr | |
| ENST00000621517.1:c.286G>A | ENSP00000484552.1:p.Ala96Thr | |
| NM_005266.6:c.286G>A | NP_005257.2:p.Ala96Thr | |
| NM_181703.3:c.286G>A | NP_859054.1:p.Ala96Thr | |
| XM_005272951.3:c.286G>A | XP_005273008.1:p.Ala96Thr | |
| XM_011509415.1:c.286G>A | XP_011507717.1:p.Ala96Thr | |
| XR_922078.1:n.434-18608C>T | ||
| XR_922079.1:n.434-18608C>T | ||
| XM_005272951.4:c.286G>A | XP_005273008.1:p.Ala96Thr | |
| XM_017001044.1:c.286G>A | XP_016856533.1:p.Ala96Thr | |
| XR_922079.3:n.744-18608C>T | ||
| NM_181703.4:c.286G>A MANE Select | NP_859054.1:p.Ala96Thr | |
| NM_005266.7:c.286G>A | NP_005257.2:p.Ala96Thr |