Linked Data
dbSNP Id:
rs200769560
gnomAD v2:
3-53845441-C-T
gnomAD v3:
3-53811414-C-T
gnomAD v4:
3-53811414-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53811414C>T , CM000665.2:g.53811414C>T | GRCh38 |
| NC_000003.11:g.53845441C>T , CM000665.1:g.53845441C>T | GRCh37 |
| NC_000003.10:g.53820481C>T | NCBI36 |
| NG_032999.1:g.321366C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481478.2:c.*8C>T | ENSP00000418014.2:n.*8C>T | |
| ENST00000636581.2:n.1883C>T | ||
| ENST00000636633.2:n.3493C>T | ||
| ENST00000636999.2:n.1929C>T | ||
| ENST00000288139.11:c.*8C>T MANE Plus Clinical | ENSP00000288139.3:n.*8C>T | |
| ENST00000350061.11:c.*8C>T MANE Select | ENSP00000288133.5:n.*8C>T | |
| ENST00000422281.7:c.6422C>T | ENSP00000409174.2:n.6422C>T | |
| ENST00000636448.1:c.2615C>T | ||
| ENST00000636581.1:n.1883C>T | ||
| ENST00000636633.1:n.3493C>T | ||
| ENST00000636999.1:n.1921C>T | ||
| ENST00000288139.8:c.*8C>T | ENSP00000288139.3:n.*8C>T | |
| ENST00000350061.9:c.*8C>T | ENSP00000288133.5:n.*8C>T | |
| ENST00000481478.1:c.5573C>T | ENSP00000418014.1:n.5573C>T | |
| NM_000720.3:c.*8C>T | NP_000711.1:n.*8C>T | |
| NM_001128839.2:c.*8C>T | NP_001122311.1:n.*8C>T | |
| NM_001128840.2:c.*8C>T | NP_001122312.1:n.*8C>T | |
| XM_005265448.2:c.*8C>T | XP_005265505.1:n.*8C>T | |
| XM_011534094.1:c.*8C>T | XP_011532396.1:n.*8C>T | |
| XM_011534095.1:c.*8C>T | XP_011532397.1:n.*8C>T | |
| XM_011534096.1:c.*8C>T | XP_011532398.1:n.*8C>T | |
| XM_011534097.1:c.*8C>T | XP_011532399.1:n.*8C>T | |
| XM_011534098.1:c.*8C>T | XP_011532400.1:n.*8C>T | |
| XM_011534099.1:c.*8C>T | XP_011532401.1:n.*8C>T | |
| XM_011534100.1:c.*8C>T | XP_011532402.1:n.*8C>T | |
| XM_011534094.2:c.*8C>T | XP_011532396.1:n.*8C>T | |
| XM_011534097.2:c.*8C>T | XP_011532399.1:n.*8C>T | |
| XM_011534099.2:c.*8C>T | XP_011532401.1:n.*8C>T | |
| XM_011534100.2:c.*8C>T | XP_011532402.1:n.*8C>T | |
| XM_017007137.1:c.*8C>T | XP_016862626.1:n.*8C>T | |
| XM_017007138.1:c.*8C>T | XP_016862627.1:n.*8C>T | |
| XM_017007139.1:c.*8C>T | XP_016862628.1:n.*8C>T | |
| XM_017007140.1:c.*8C>T | XP_016862629.1:n.*8C>T | |
| XM_017007141.1:c.*8C>T | XP_016862630.1:n.*8C>T | |
| XM_017007142.1:c.*8C>T | XP_016862631.1:n.*8C>T | |
| XM_017007143.1:c.*8C>T | XP_016862632.1:n.*8C>T | |
| XM_017007144.1:c.*8C>T | XP_016862633.1:n.*8C>T | |
| XM_017007145.1:c.*8C>T | XP_016862634.1:n.*8C>T | |
| NM_001128840.3:c.*8C>T MANE Select | NP_001122312.1:n.*8C>T | |
| NM_000720.4:c.*8C>T MANE Plus Clinical | NP_000711.1:n.*8C>T | |
| NM_001128839.3:c.*8C>T | NP_001122311.1:n.*8C>T |