Linked Data
dbSNP Id:
rs1184276659
gnomAD v2:
17-42937282-G-A
gnomAD v3:
17-44859914-G-A
gnomAD v4:
17-44859914-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44859914G>A , CM000679.2:g.44859914G>A | GRCh38 |
| NC_000017.10:g.42937282G>A , CM000679.1:g.42937282G>A | GRCh37 |
| NC_000017.9:g.40292808G>A | NCBI36 |
| NG_032674.1:g.44712C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426333.7:c.1851C>T MANE Select | ENSP00000392094.1:p.Leu617= | |
| ENST00000402521.7:c.1746C>T | ENSP00000385873.2:p.Leu582= | |
| ENST00000426333.6:c.1851C>T | ENSP00000392094.1:p.Leu617= | |
| ENST00000586276.5:n.1513C>T | ||
| ENST00000590367.5:n.1579C>T | ||
| ENST00000591382.5:c.1851C>T | ENSP00000467805.1:p.Leu617= | |
| ENST00000592576.5:c.1821C>T | ENSP00000465058.1:p.Leu607= | |
| NM_001142605.1:c.1746C>T | NP_001136077.1:p.Leu582= | |
| NM_001258353.1:c.1851C>T | NP_001245282.1:p.Leu617= | |
| NM_001258354.1:c.1821C>T | NP_001245283.1:p.Leu607= | |
| NM_004247.3:c.1851C>T | NP_004238.3:p.Leu617= | |
| XR_934602.1:n.1936C>T | ||
| XR_934602.3:n.1932C>T | ||
| NM_004247.4:c.1851C>T MANE Select | NP_004238.3:p.Leu617= | |
| NM_001142605.2:c.1746C>T | NP_001136077.1:p.Leu582= | |
| NM_001258353.2:c.1851C>T | NP_001245282.1:p.Leu617= | |
| NM_001258354.2:c.1821C>T | NP_001245283.1:p.Leu607= |