COSMIC:
COSM1128913 (not active)
Revel Score:
ENST00000341529 (MANE Select)
0.104
ENST00000379531
0.104
ENST00000539262
0.104
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83487558 (AMR)
Genomes Max Group AF
0.78861949 (EAS)
Exomes Max Group AF
0.85017769 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66398520T>C , CM000678.2:g.66398520T>C | GRCh38 |
| NC_000016.9:g.66432423T>C , CM000678.1:g.66432423T>C | GRCh37 |
| NC_000016.8:g.64989924T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341529.8:c.1550T>C MANE Select | ENSP00000344115.3:p.Ile517Thr | |
| ENST00000649567.1:c.1550T>C | ENSP00000497290.1:p.Ile517Thr | |
| ENST00000341529.7:c.1550T>C | ENSP00000344115.3:p.Ile517Thr | |
| ENST00000539168.1:c.-134T>C | ENSP00000461880.1:n.-134T>C | |
| ENST00000565334.5:c.*673T>C | ENSP00000456028.1:n.*673T>C | |
| ENST00000614547.4:c.1205T>C | ENSP00000479381.1:p.Ile402Thr | |
| NM_001795.3:c.1550T>C | NP_001786.2:p.Ile517Thr | |
| XM_011522801.1:c.1577T>C | XP_011521103.1:p.Ile526Thr | |
| NM_001795.4:c.1550T>C | NP_001786.2:p.Ile517Thr | |
| XM_011522801.2:c.1577T>C | XP_011521103.1:p.Ile526Thr | |
| XM_024450133.1:c.1577T>C | XP_024305901.1:p.Ile526Thr | |
| NM_001795.5:c.1550T>C MANE Select | NP_001786.2:p.Ile517Thr |