Linked Data
ClinVar Variation Id:
1143775
ClinVar RCV Id:
RCV001482061
dbSNP Id:
rs532126218
ExAC:
9:34648831 C / T
gnomAD v2:
9-34648831-C-T
gnomAD v3:
9-34648834-C-T
gnomAD v4:
9-34648834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648834C>T , CM000671.2:g.34648834C>T | GRCh38 |
| NC_000009.11:g.34648831C>T , CM000671.1:g.34648831C>T | GRCh37 |
| NC_000009.10:g.34638831C>T | NCBI36 |
| NG_009029.1:g.7197C>T | |
| NG_028966.1:g.1650C>T | |
| NG_009029.2:g.7246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*348C>T | ENSP00000509954.1:n.*348C>T | |
| ENST00000378842.8:c.760C>T MANE Select | ENSP00000368119.4:p.Leu254= | |
| ENST00000378842.7:c.760C>T | ENSP00000368119.3:p.Leu254= | |
| ENST00000450095.6:c.433C>T | ENSP00000401956.2:p.Leu145= | |
| ENST00000473506.6:c.*348C>T | ENSP00000432839.2:n.*348C>T | |
| ENST00000489643.6:n.840C>T | ||
| ENST00000554085.5:c.*504C>T | ENSP00000450419.1:n.*504C>T | |
| ENST00000554550.5:c.*380C>T | ENSP00000451435.1:n.*380C>T | |
| ENST00000554638.5:n.1232C>T | ||
| ENST00000555020.5:n.1221C>T | ||
| ENST00000555086.5:n.764C>T | ||
| ENST00000555754.1:n.105C>T | ||
| ENST00000556244.1:c.747C>T | ||
| ENST00000556278.1:c.432+378C>T | ENSP00000451792.1:n.432+378C>T | |
| ENST00000557706.5:n.1322C>T | ||
| NM_000155.3:c.760C>T | NP_000146.2:p.Leu254= | |
| NM_001258332.1:c.433C>T | NP_001245261.1:p.Leu145= | |
| NM_000155.4:c.760C>T MANE Select | NP_000146.2:p.Leu254= | |
| NM_001258332.2:c.433C>T | NP_001245261.1:p.Leu145= |