Linked Data
ClinVar Variation Id:
1535034
ClinVar RCV Id:
RCV002072571
dbSNP Id:
rs1651976766
gnomAD v3:
1-119737170-C-T
gnomAD v4:
1-119737170-C-T
MyVariant Identifiers:
chr1:g.120279793C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119737170C>T , CM000663.2:g.119737170C>T | GRCh38 |
| NC_000001.10:g.120279793C>T , CM000663.1:g.120279793C>T | GRCh37 |
| NC_000001.9:g.120081316C>T | NCBI36 |
| NG_009188.1:g.30375C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.849C>T | ENSP00000358417.5:p.His283= | |
| ENST00000641023.2:c.849C>T MANE Select | ENSP00000493175.1:p.His283= | |
| ENST00000641074.1:c.849C>T | ENSP00000493446.1:p.His283= | |
| ENST00000641115.1:c.849C>T | ENSP00000493264.1:p.His283= | |
| ENST00000641213.1:c.*502C>T | ENSP00000493079.1:n.*502C>T | |
| ENST00000641314.1:n.834C>T | ||
| ENST00000641375.1:c.*685C>T | ENSP00000493089.1:n.*685C>T | |
| ENST00000641597.1:c.849C>T | ENSP00000493382.1:p.His283= | |
| ENST00000641756.1:c.*593C>T | ENSP00000493147.1:n.*593C>T | |
| ENST00000641811.1:c.605C>T | ||
| ENST00000641891.1:c.*675C>T | ENSP00000493288.1:n.*675C>T | |
| ENST00000641927.1:n.789C>T | ||
| ENST00000641947.1:c.849C>T | ENSP00000492994.1:p.His283= | |
| ENST00000642021.1:n.971C>T | ||
| ENST00000369407.3:c.747C>T | ENSP00000358415.3:p.His249= | |
| ENST00000369409.8:c.849C>T | ENSP00000358417.4:p.His283= | |
| NM_006623.3:c.849C>T | NP_006614.2:p.His283= | |
| XM_011541226.1:c.1071C>T | XP_011539528.1:p.His357= | |
| XM_011541227.1:c.993C>T | XP_011539529.1:p.His331= | |
| XM_011541228.1:c.960C>T | XP_011539530.1:p.His320= | |
| XM_011541229.1:c.786C>T | XP_011539531.1:p.His262= | |
| XM_011541230.1:c.564C>T | XP_011539532.1:p.His188= | |
| XM_011541231.1:c.555C>T | XP_011539533.1:p.His185= | |
| XM_011541226.2:c.1071C>T | XP_011539528.1:p.His357= | |
| XM_011541227.2:c.993C>T | XP_011539529.1:p.His331= | |
| XM_011541228.2:c.960C>T | XP_011539530.1:p.His320= | |
| XM_011541231.2:c.555C>T | XP_011539533.1:p.His185= | |
| XM_024446338.1:c.960C>T | XP_024302106.1:p.His320= | |
| NM_006623.4:c.849C>T MANE Select | NP_006614.2:p.His283= |