Revel Score:
ENST00000505728
0.008
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002338 (SAS)
Exomes Max Group AF
0.00002524 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108622686C>T , CM000685.2:g.108622686C>T | GRCh38 |
| NC_000023.10:g.107865916C>T , CM000685.1:g.107865916C>T | GRCh37 |
| NC_000023.9:g.107752572C>T | NCBI36 |
| NG_011977.1:g.187763C>T | |
| NG_011977.2:g.187763C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.2778C>T MANE Select | ENSP00000331902.7:p.Gly926= | |
| ENST00000361603.7:c.2778C>T | ENSP00000354505.2:p.Gly926= | |
| ENST00000328300.10:c.2778C>T | ENSP00000331902.6:p.Gly926= | |
| ENST00000361603.6:c.2778C>T | ENSP00000354505.2:p.Gly926= | |
| ENST00000483338.1:n.2234C>T | ||
| ENST00000505728.1:c.11C>T | ||
| NM_000495.4:c.2778C>T | NP_000486.1:p.Gly926= | |
| NM_033380.2:c.2778C>T | NP_203699.1:p.Gly926= | |
| XM_005262070.2:c.2778C>T | XP_005262127.1:p.Gly926= | |
| XM_005262072.3:c.2778C>T | XP_005262129.1:p.Gly926= | |
| XM_006724616.2:c.2778C>T | XP_006724679.1:p.Gly926= | |
| XM_011530849.1:c.2454C>T | XP_011529151.1:p.Gly818= | |
| XM_011530850.1:c.2778C>T | XP_011529152.1:p.Gly926= | |
| XM_011530851.1:c.351C>T | XP_011529153.1:p.Gly117= | |
| XM_011530849.2:c.2793C>T | XP_011529151.2:p.Gly931= | |
| XM_017029259.2:c.2793C>T | XP_016884748.1:p.Gly931= | |
| XM_017029260.1:c.2793C>T | XP_016884749.1:p.Gly931= | |
| XM_017029261.1:c.2793C>T | XP_016884750.1:p.Gly931= | |
| XM_017029262.2:c.2793C>T | XP_016884751.1:p.Gly931= | |
| XM_017029263.2:c.1113C>T | XP_016884752.1:p.Gly371= | |
| NM_000495.5:c.2778C>T | NP_000486.1:p.Gly926= | |
| NM_033380.3:c.2778C>T MANE Select | NP_203699.1:p.Gly926= |