Revel Score:
ENST00000225964 (MANE Select)
0.437
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188747C>T , CM000679.2:g.50188747C>T | GRCh38 |
| NC_000017.10:g.48266108C>T , CM000679.1:g.48266108C>T | GRCh37 |
| NC_000017.9:g.45621107C>T | NCBI36 |
| NG_007400.1:g.17893G>A , LRG_1:g.17893G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3094G>A MANE Select | ENSP00000225964.6:p.Ala1032Thr | |
| ENST00000225964.9:c.3094G>A | ENSP00000225964.5:p.Ala1032Thr | |
| ENST00000511732.1:n.38G>A | ||
| NM_000088.3:c.3094G>A , LRG_1t1:c.3094G>A | NP_000079.2:p.Ala1032Thr | |
| XM_005257058.3:c.2824G>A | XP_005257115.2:p.Ala942Thr | |
| XM_005257059.3:c.2176G>A | XP_005257116.2:p.Ala726Thr | |
| XM_011524341.1:c.2896G>A | XP_011522643.1:p.Ala966Thr | |
| XM_005257058.4:c.2824G>A | XP_005257115.2:p.Ala942Thr | |
| XM_005257059.4:c.2176G>A | XP_005257116.2:p.Ala726Thr | |
| NM_000088.4:c.3094G>A MANE Select | NP_000079.2:p.Ala1032Thr |