Linked Data
ClinVar Variation Id:
30976
ClinVar RCV Id:
RCV000023967
dbSNP Id:
rs281865549
gnomAD v3:
17-7702514-C-T
gnomAD v4:
17-7702514-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7702514C>T , CM000679.2:g.7702514C>T | GRCh38 |
| NC_000017.10:g.7605832C>T , CM000679.1:g.7605832C>T | GRCh37 |
| NC_000017.9:g.7546557C>T | NCBI36 |
| NG_028245.1:g.21444C>T , LRG_375:g.21444C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698742.1:c.1126C>T | ENSP00000513904.1:p.His376Tyr | |
| ENST00000698743.1:c.*859C>T | ENSP00000513905.1:n.*859C>T | |
| ENST00000698744.1:c.*786C>T | ENSP00000513906.1:n.*786C>T | |
| ENST00000698745.1:c.*570C>T | ENSP00000513907.1:n.*570C>T | |
| ENST00000698746.1:c.1126C>T | ENSP00000513908.1:p.His376Tyr | |
| ENST00000698747.1:c.718C>T | ENSP00000513909.1:p.His240Tyr | |
| ENST00000396463.7:c.1126C>T MANE Select | ENSP00000379727.3:p.His376Tyr | |
| ENST00000316024.9:c.1126C>T | ENSP00000324203.5:p.His376Tyr | |
| ENST00000396463.6:c.1126C>T | ENSP00000379727.2:p.His376Tyr | |
| ENST00000431639.6:c.1126C>T | ENSP00000397219.2:p.His376Tyr | |
| ENST00000457584.6:c.1126C>T | ENSP00000411061.2:p.His376Tyr | |
| ENST00000463804.6:c.134-229C>T | ENSP00000465025.1:n.134-229C>T | |
| ENST00000467699.5:n.1798C>T | ||
| ENST00000471973.6:n.397C>T | ||
| ENST00000498311.5:c.*294C>T | ENSP00000432991.1:n.*294C>T | |
| ENST00000534050.5:c.1027C>T | ENSP00000434999.1:p.His343Tyr | |
| NM_001143990.1:c.1126C>T | NP_001137462.1:p.His376Tyr | |
| NM_001143991.1:c.1126C>T | NP_001137463.1:p.His376Tyr | |
| NM_001143992.1:c.1126C>T | NP_001137464.1:p.His376Tyr | |
| NM_018081.2:c.1126C>T , LRG_375t1:c.1126C>T | NP_060551.2:p.His376Tyr | |
| XM_011523952.1:c.487C>T | XP_011522254.1:p.His163Tyr | |
| XM_011523952.2:c.487C>T | XP_011522254.1:p.His163Tyr | |
| XM_024450824.1:c.334C>T | XP_024306592.1:p.His112Tyr | |
| XR_001752551.2:n.1403C>T | ||
| NM_001143991.2:c.1126C>T | NP_001137463.1:p.His376Tyr | |
| NM_001143992.2:c.1126C>T MANE Select | NP_001137464.1:p.His376Tyr | |
| NM_001143990.2:c.1126C>T | NP_001137462.1:p.His376Tyr |