Linked Data
ClinVar Variation Id:
36145
dbSNP Id:
rs193922248
gnomAD v2:
9-34647836-A-T
gnomAD v4:
9-34647839-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647839A>T , CM000671.2:g.34647839A>T | GRCh38 |
| NC_000009.11:g.34647836A>T , CM000671.1:g.34647836A>T | GRCh37 |
| NC_000009.10:g.34637836A>T | NCBI36 |
| NG_009029.1:g.6202A>T | |
| NG_028966.1:g.655A>T | |
| NG_009029.2:g.6251A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.336A>T | ENSP00000509954.1:p.Ser112= | |
| ENST00000378842.8:c.385A>T MANE Select | ENSP00000368119.4:p.Met129Leu | |
| ENST00000378842.7:c.385A>T | ENSP00000368119.3:p.Met129Leu | |
| ENST00000450095.6:c.58A>T | ENSP00000401956.2:p.Met20Leu | |
| ENST00000465543.6:n.724A>T | ||
| ENST00000472111.5:n.641A>T | ||
| ENST00000473506.6:c.336A>T | ENSP00000432839.2:p.Ser112= | |
| ENST00000473529.5:n.521A>T | ||
| ENST00000485531.1:n.826A>T | ||
| ENST00000487381.5:n.770A>T | ||
| ENST00000489643.6:n.283-276A>T | ||
| ENST00000554085.5:c.*129A>T | ENSP00000450419.1:n.*129A>T | |
| ENST00000554139.5:n.564A>T | ||
| ENST00000554330.5:n.548A>T | ||
| ENST00000554550.5:c.*5A>T | ENSP00000451435.1:n.*5A>T | |
| ENST00000554638.5:n.857A>T | ||
| ENST00000554897.5:c.*5A>T | ENSP00000450942.1:n.*5A>T | |
| ENST00000554944.5:n.581A>T | ||
| ENST00000555020.5:n.541A>T | ||
| ENST00000555086.5:n.389A>T | ||
| ENST00000555214.5:n.262-209A>T | ||
| ENST00000556244.1:c.372A>T | ||
| ENST00000556278.1:c.253-276A>T | ENSP00000451792.1:n.253-276A>T | |
| ENST00000556494.5:n.506A>T | ||
| ENST00000557541.5:n.529A>T | ||
| ENST00000557706.5:n.947A>T | ||
| NM_000155.3:c.385A>T | NP_000146.2:p.Met129Leu | |
| NM_001258332.1:c.58A>T | NP_001245261.1:p.Met20Leu | |
| NM_000155.4:c.385A>T MANE Select | NP_000146.2:p.Met129Leu | |
| NM_001258332.2:c.58A>T | NP_001245261.1:p.Met20Leu |