Linked Data
ClinVar Variation Id:
1534696
ClinVar RCV Id:
RCV002076886
dbSNP Id:
rs1295720869
gnomAD v2:
16-14041887-T-C
gnomAD v3:
16-13948030-T-C
gnomAD v4:
16-13948030-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948030T>C , CM000678.2:g.13948030T>C | GRCh38 |
| NC_000016.9:g.14041887T>C , CM000678.1:g.14041887T>C | GRCh37 |
| NC_000016.8:g.13949388T>C | NCBI36 |
| NG_011442.1:g.32874T>C , LRG_463:g.32874T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682617.1:c.2572T>C | ENSP00000507912.1:p.Leu858= | |
| ENST00000683962.1:c.*2128T>C | ENSP00000506854.1:n.*2128T>C | |
| ENST00000311895.8:c.2434T>C MANE Select | ENSP00000310520.7:p.Leu812= | |
| ENST00000311895.7:c.2434T>C | ENSP00000310520.7:p.Leu812= | |
| ENST00000389138.7:n.1711T>C | ||
| NM_005236.2:c.2434T>C , LRG_463t1:c.2434T>C | NP_005227.1:p.Leu812= | |
| XM_011522424.1:c.2572T>C | XP_011520726.1:p.Leu858= | |
| XM_011522425.1:c.1891T>C | XP_011520727.1:p.Leu631= | |
| XM_011522426.1:c.1645T>C | XP_011520728.1:p.Leu549= | |
| XM_011522427.1:c.1084T>C | XP_011520729.1:p.Leu362= | |
| XR_932805.1:n.2593T>C | ||
| XM_011522424.3:c.2572T>C | XP_011520726.1:p.Leu858= | |
| XM_017023043.2:c.1645T>C | XP_016878532.1:p.Leu549= | |
| NM_005236.3:c.2434T>C MANE Select | NP_005227.1:p.Leu812= |