Revel Score:
ENST00000512123 (MANE Select)
0.016
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002255 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78482396C>G , CM000666.2:g.78482396C>G | GRCh38 |
| NC_000004.11:g.79403550C>G , CM000666.1:g.79403550C>G | GRCh37 |
| NC_000004.10:g.79622574C>G | NCBI36 |
| NG_015812.1:g.429827C>G | |
| NG_015812.2:g.429827C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.8613C>G | ENSP00000508201.1:p.Thr2871= | |
| ENST00000512123.4:c.8613C>G MANE Select | ENSP00000422834.2:p.Thr2871= | |
| ENST00000512123.3:c.8613C>G | ENSP00000422834.2:p.Thr2871= | |
| NM_025074.6:c.8613C>G | NP_079350.5:p.Thr2871= | |
| XM_006714314.1:c.8607C>G | XP_006714377.1:p.Thr2869= | |
| XM_006714316.1:c.8385C>G | XP_006714379.1:p.Thr2795= | |
| XM_011532270.1:c.6312C>G | XP_011530572.1:p.Thr2104= | |
| XM_011532271.1:c.3501C>G | XP_011530573.1:p.Thr1167= | |
| XM_006714316.3:c.8385C>G | XP_006714379.1:p.Thr2795= | |
| NM_025074.7:c.8613C>G MANE Select | NP_079350.5:p.Thr2871= |