Linked Data
ClinVar Variation Id:
201914
ClinVar RCV Id:
RCV000183647
dbSNP Id:
rs794729081
gnomAD v4:
1-77917600-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77917600C>T , CM000663.2:g.77917600C>T | GRCh38 |
| NC_000001.10:g.78383285C>T , CM000663.1:g.78383285C>T | GRCh37 |
| NC_000001.9:g.78155873C>T | NCBI36 |
| NG_016625.1:g.34086C>T , LRG_442:g.34086C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.62C>T MANE Select | ENSP00000333938.7:p.Thr21Ile | |
| ENST00000330010.12:c.28-360C>T | ENSP00000327363.8:n.28-360C>T | |
| ENST00000334785.11:c.62C>T | ENSP00000333938.7:p.Thr21Ile | |
| ENST00000401035.7:c.28-360C>T | ENSP00000383814.3:n.28-360C>T | |
| ENST00000440324.5:c.62C>T | ENSP00000411902.1:p.Thr21Ile | |
| NM_001172309.1:c.28-360C>T | NP_001165780.1:n.28-360C>T | |
| NM_144573.3:c.62C>T , LRG_442t1:c.62C>T | NP_653174.3:p.Thr21Ile | |
| XM_005271322.2:c.62C>T | XP_005271379.1:p.Thr21Ile | |
| XM_005271323.2:c.62C>T | XP_005271380.1:p.Thr21Ile | |
| XM_005271324.3:c.28-360C>T | XP_005271381.1:n.28-360C>T | |
| XM_005271325.2:c.62C>T | XP_005271382.1:p.Thr21Ile | |
| XM_005271326.2:c.28-360C>T | XP_005271383.1:n.28-360C>T | |
| XM_005271327.2:c.62C>T | XP_005271384.1:p.Thr21Ile | |
| XM_005271322.4:c.62C>T | XP_005271379.1:p.Thr21Ile | |
| XM_005271323.4:c.62C>T | XP_005271380.1:p.Thr21Ile | |
| XM_005271324.5:c.28-360C>T | XP_005271381.1:n.28-360C>T | |
| XM_005271325.4:c.62C>T | XP_005271382.1:p.Thr21Ile | |
| XM_005271326.4:c.28-360C>T | XP_005271383.1:n.28-360C>T | |
| XM_005271327.4:c.62C>T | XP_005271384.1:p.Thr21Ile | |
| NM_001172309.2:c.28-360C>T | NP_001165780.1:n.28-360C>T | |
| NM_144573.4:c.62C>T MANE Select | NP_653174.3:p.Thr21Ile |