Revel Score:
ENST00000434629
0.064
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00025552 (AFR)
Genomes Max Group AF
0.00024142 (AFR)
Exomes Max Group AF
0.00018688 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104167627A>G , CM000672.2:g.104167627A>G | GRCh38 |
| NC_000010.10:g.105927385A>G , CM000672.1:g.105927385A>G | GRCh37 |
| NC_000010.9:g.105917375A>G | NCBI36 |
| NG_051581.1:g.69751T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278064.7:c.2805T>C | ENSP00000278064.3:p.Cys935= | |
| ENST00000357060.8:c.2802T>C MANE Select | ENSP00000349568.3:p.Cys934= | |
| ENST00000278064.6:c.2595T>C | ENSP00000278064.2:p.Cys865= | |
| ENST00000357060.7:c.2802T>C | ENSP00000349568.3:p.Cys934= | |
| ENST00000434629.5:c.884T>C | ||
| NM_025145.5:c.2802T>C | NP_079421.5:p.Cys934= | |
| XM_005270171.1:c.2805T>C | XP_005270228.1:p.Cys935= | |
| XM_005270172.2:c.2805T>C | XP_005270229.1:p.Cys935= | |
| XM_011540196.1:c.2919T>C | XP_011538498.1:p.Cys973= | |
| XM_011540197.1:c.2919T>C | XP_011538499.1:p.Cys973= | |
| XM_011540198.1:c.2802T>C | XP_011538500.1:p.Cys934= | |
| XM_011540199.1:c.2809-909T>C | XP_011538501.1:n.2809-909T>C | |
| XM_011540200.1:c.2919T>C | XP_011538502.1:p.Cys973= | |
| XM_011540201.1:c.2919T>C | XP_011538503.1:p.Cys973= | |
| XM_011540202.1:c.2148T>C | XP_011538504.1:p.Cys716= | |
| XM_011540203.1:c.702T>C | XP_011538505.1:p.Cys234= | |
| NM_025145.6:c.2802T>C | NP_079421.5:p.Cys934= | |
| XM_005270171.2:c.2805T>C | XP_005270228.1:p.Cys935= | |
| XM_005270172.3:c.2805T>C | XP_005270229.1:p.Cys935= | |
| XM_011540196.2:c.2919T>C | XP_011538498.1:p.Cys973= | |
| XM_011540197.2:c.2919T>C | XP_011538499.1:p.Cys973= | |
| XM_011540198.2:c.2802T>C | XP_011538500.1:p.Cys934= | |
| XM_011540199.2:c.2809-909T>C | XP_011538501.1:n.2809-909T>C | |
| XM_011540200.2:c.2919T>C | XP_011538502.1:p.Cys973= | |
| XM_011540201.2:c.2919T>C | XP_011538503.1:p.Cys973= | |
| XM_011540202.2:c.2148T>C | XP_011538504.1:p.Cys716= | |
| XM_017016681.1:c.2916T>C | XP_016872170.1:p.Cys972= | |
| XM_017016682.1:c.2578-909T>C | XP_016872171.1:n.2578-909T>C | |
| XM_017016684.1:c.2805T>C | XP_016872173.1:p.Cys935= | |
| XM_024448177.1:c.1305T>C | XP_024303945.1:p.Cys435= | |
| XM_024448178.1:c.702T>C | XP_024303946.1:p.Cys234= | |
| XR_002957015.1:n.2688T>C | ||
| NM_025145.7:c.2802T>C MANE Select | NP_079421.5:p.Cys934= |