Linked Data
ClinVar Variation Id:
487585
ClinVar RCV Id:
RCV000656147
dbSNP Id:
rs1554774990
gnomAD v4:
10-20812814-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.20812814G>A , CM000672.2:g.20812814G>A | GRCh38 |
| NC_000010.10:g.21101743G>A , CM000672.1:g.21101743G>A | GRCh37 |
| NC_000010.9:g.21141749G>A | NCBI36 |
| NG_017092.1:g.366374C>T , LRG_411:g.366374C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377122.9:c.2473C>T MANE Select | ENSP00000366326.4:p.His825Tyr | |
| ENST00000675114.1:n.692C>T | ||
| ENST00000675700.1:n.507C>T | ||
| ENST00000675702.1:n.763C>T | ||
| ENST00000676125.1:c.471C>T | ||
| ENST00000377122.8:c.2473C>T | ENSP00000366326.4:p.His825Tyr | |
| ENST00000417816.2:c.484C>T | ENSP00000393896.2:p.His162Tyr | |
| ENST00000493005.5:n.1793C>T | ||
| NM_001173484.1:c.484C>T | NP_001166955.1:p.His162Tyr | |
| NM_006393.2:c.2473C>T , LRG_411t2:c.2473C>T | NP_006384.1:p.His825Tyr | |
| NM_213569.2:c.484C>T , LRG_411t1:c.484C>T | NP_998734.1:p.His162Tyr | |
| XM_005252342.3:c.2371C>T | XP_005252399.1:p.His791Tyr | |
| XM_005252343.3:c.2473C>T | XP_005252400.1:p.His825Tyr | |
| XM_005252344.3:c.2473C>T | XP_005252401.1:p.His825Tyr | |
| XM_011519290.1:c.2425C>T | XP_011517592.1:p.His809Tyr | |
| XM_011519291.1:c.2425C>T | XP_011517593.1:p.His809Tyr | |
| XR_242691.3:n.3305C>T | ||
| XM_005252342.5:c.2371C>T | XP_005252399.1:p.His791Tyr | |
| XM_005252343.5:c.2473C>T | XP_005252400.1:p.His825Tyr | |
| XM_005252344.5:c.2473C>T | XP_005252401.1:p.His825Tyr | |
| XM_011519291.2:c.2425C>T | XP_011517593.1:p.His809Tyr | |
| XM_017015468.1:c.2425C>T | XP_016870957.1:p.His809Tyr | |
| XR_242691.5:n.4789C>T | ||
| NM_001173484.2:c.484C>T | NP_001166955.1:p.His162Tyr | |
| NM_001377322.1:c.484C>T | NP_001364251.1:p.His162Tyr | |
| NM_001377323.1:c.436C>T | NP_001364252.1:p.His146Tyr | |
| NM_001377324.1:c.427C>T | NP_001364253.1:p.His143Tyr | |
| NM_001377325.1:c.418C>T | NP_001364254.1:p.His140Tyr | |
| NM_001377326.1:c.376C>T | NP_001364255.1:p.His126Tyr | |
| NM_001377327.1:c.376C>T | NP_001364256.1:p.His126Tyr | |
| NM_001377328.1:c.376C>T | NP_001364257.1:p.His126Tyr | |
| NM_006393.3:c.2473C>T MANE Select | NP_006384.1:p.His825Tyr |