Linked Data
ClinVar Variation Id:
201924
dbSNP Id:
rs200442502
ExAC:
1:78401527 C / T
gnomAD v2:
1-78401527-C-T
gnomAD v3:
1-77935842-C-T
gnomAD v4:
1-77935842-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77935842C>T , CM000663.2:g.77935842C>T | GRCh38 |
| NC_000001.10:g.78401527C>T , CM000663.1:g.78401527C>T | GRCh37 |
| NC_000001.9:g.78174115C>T | NCBI36 |
| NG_016625.1:g.52328C>T , LRG_442:g.52328C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334785.12:c.1271C>T MANE Select | ENSP00000333938.7:p.Thr424Ile | |
| ENST00000330010.12:c.1079C>T | ENSP00000327363.8:p.Thr360Ile | |
| ENST00000334785.11:c.1271C>T | ENSP00000333938.7:p.Thr424Ile | |
| ENST00000342754.5:c.970C>T | ||
| ENST00000440324.5:c.1229C>T | ENSP00000411902.1:p.Thr410Ile | |
| ENST00000464998.1:n.731C>T | ||
| ENST00000480732.2:n.845C>T | ||
| NM_001172309.1:c.1079C>T | NP_001165780.1:p.Thr360Ile | |
| NM_144573.3:c.1271C>T , LRG_442t1:c.1271C>T | NP_653174.3:p.Thr424Ile | |
| XM_005271322.2:c.1271C>T | XP_005271379.1:p.Thr424Ile | |
| XM_005271323.2:c.1229C>T | XP_005271380.1:p.Thr410Ile | |
| XM_005271324.3:c.1079C>T | XP_005271381.1:p.Thr360Ile | |
| XM_005271325.2:c.1251+2363C>T | XP_005271382.1:n.1251+2363C>T | |
| XM_005271326.2:c.1037C>T | XP_005271383.1:p.Thr346Ile | |
| XM_005271327.2:c.854C>T | XP_005271384.1:p.Thr285Ile | |
| XM_005271322.4:c.1271C>T | XP_005271379.1:p.Thr424Ile | |
| XM_005271323.4:c.1229C>T | XP_005271380.1:p.Thr410Ile | |
| XM_005271324.5:c.1079C>T | XP_005271381.1:p.Thr360Ile | |
| XM_005271325.4:c.1251+2363C>T | XP_005271382.1:n.1251+2363C>T | |
| XM_005271326.4:c.1037C>T | XP_005271383.1:p.Thr346Ile | |
| XM_005271327.4:c.854C>T | XP_005271384.1:p.Thr285Ile | |
| NM_001172309.2:c.1079C>T | NP_001165780.1:p.Thr360Ile | |
| NM_144573.4:c.1271C>T MANE Select | NP_653174.3:p.Thr424Ile |