Linked Data
ClinVar Variation Id:
2136761
ClinVar RCV Id:
RCV003037320
dbSNP Id:
rs111033823
gnomAD v4:
9-34650417-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34650417C>T , CM000671.2:g.34650417C>T | GRCh38 |
| NC_000009.11:g.34650414C>T , CM000671.1:g.34650414C>T | GRCh37 |
| NC_000009.10:g.34640414C>T | NCBI36 |
| NG_009029.1:g.8780C>T | |
| NG_028966.1:g.3233C>T | |
| NG_009029.2:g.8829C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*696C>T | ENSP00000509954.1:n.*696C>T | |
| ENST00000378842.8:c.1108C>T MANE Select | ENSP00000368119.4:p.Gln370Ter | |
| ENST00000378842.7:c.1108C>T | ENSP00000368119.3:p.Gln370Ter | |
| ENST00000450095.6:c.781C>T | ENSP00000401956.2:p.Gln261Ter | |
| ENST00000488412.2:n.692C>T | ||
| ENST00000554550.5:c.*728C>T | ENSP00000451435.1:n.*728C>T | |
| ENST00000554638.5:n.1580C>T | ||
| ENST00000555754.1:n.556C>T | ||
| ENST00000556278.1:c.432+1961C>T | ENSP00000451792.1:n.432+1961C>T | |
| ENST00000557706.5:n.1683C>T | ||
| NM_000155.3:c.1108C>T | NP_000146.2:p.Gln370Ter | |
| NM_001258332.1:c.781C>T | NP_001245261.1:p.Gln261Ter | |
| NM_000155.4:c.1108C>T MANE Select | NP_000146.2:p.Gln370Ter | |
| NM_001258332.2:c.781C>T | NP_001245261.1:p.Gln261Ter |