Linked Data
ClinVar Variation Id:
1984045
ClinVar RCV Id:
RCV002756721
dbSNP Id:
rs148762102
gnomAD v4:
9-34517288-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34517288C>T , CM000671.2:g.34517288C>T | GRCh38 |
| NC_000009.11:g.34517286C>T , CM000671.1:g.34517286C>T | GRCh37 |
| NC_000009.10:g.34507286C>T | NCBI36 |
| NG_008127.1:g.63476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.1822C>T MANE Select | ENSP00000242317.4:p.His608Tyr | |
| ENST00000242317.8:c.1822C>T | ENSP00000242317.4:p.His608Tyr | |
| ENST00000442556.1:c.329+2549C>T | ||
| ENST00000470169.5:c.610C>T | ||
| ENST00000485580.1:n.398C>T | ||
| ENST00000614641.4:c.1834C>T | ENSP00000480538.1:p.His612Tyr | |
| NM_001281428.1:c.1834C>T | NP_001268357.1:p.His612Tyr | |
| NM_012144.3:c.1822C>T | NP_036276.1:p.His608Tyr | |
| XM_006716758.2:c.1291C>T | XP_006716821.1:p.His431Tyr | |
| XM_011517848.1:c.1576C>T | XP_011516150.1:p.His526Tyr | |
| XM_006716758.3:c.1291C>T | XP_006716821.1:p.His431Tyr | |
| XM_011517848.2:c.1576C>T | XP_011516150.1:p.His526Tyr | |
| XM_017014625.2:c.1564C>T | XP_016870114.1:p.His522Tyr | |
| XR_002956774.1:n.1925C>T | ||
| NM_012144.4:c.1822C>T MANE Select | NP_036276.1:p.His608Tyr | |
| NM_001281428.2:c.1834C>T | NP_001268357.1:p.His612Tyr |