Linked Data
dbSNP Id:
rs140252818
ExAC:
16:14029281 G / T
gnomAD v2:
16-14029281-G-T
gnomAD v3:
16-13935424-G-T
gnomAD v4:
16-13935424-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13935424G>T , CM000678.2:g.13935424G>T | GRCh38 |
| NC_000016.9:g.14029281G>T , CM000678.1:g.14029281G>T | GRCh37 |
| NC_000016.8:g.13936782G>T | NCBI36 |
| NG_011442.1:g.20268G>T , LRG_463:g.20268G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682568.1:n.1570G>T | ||
| ENST00000682617.1:c.1630G>T | ENSP00000507912.1:p.Val544Leu | |
| ENST00000682826.1:c.*806G>T | ENSP00000507274.1:n.*806G>T | |
| ENST00000682909.1:n.3532G>T | ||
| ENST00000683277.1:n.3137G>T | ||
| ENST00000683407.1:n.1500G>T | ||
| ENST00000683962.1:c.*1186G>T | ENSP00000506854.1:n.*1186G>T | |
| ENST00000311895.8:c.1492G>T MANE Select | ENSP00000310520.7:p.Val498Leu | |
| ENST00000311895.7:c.1492G>T | ENSP00000310520.7:p.Val498Leu | |
| ENST00000389138.7:n.769G>T | ||
| NM_005236.2:c.1492G>T , LRG_463t1:c.1492G>T | NP_005227.1:p.Val498Leu | |
| XM_011522424.1:c.1630G>T | XP_011520726.1:p.Val544Leu | |
| XM_011522425.1:c.949G>T | XP_011520727.1:p.Val317Leu | |
| XM_011522426.1:c.703G>T | XP_011520728.1:p.Val235Leu | |
| XM_011522427.1:c.142G>T | XP_011520729.1:p.Val48Leu | |
| XR_932805.1:n.1651G>T | ||
| XM_011522424.3:c.1630G>T | XP_011520726.1:p.Val544Leu | |
| XM_017023043.2:c.703G>T | XP_016878532.1:p.Val235Leu | |
| NM_005236.3:c.1492G>T MANE Select | NP_005227.1:p.Val498Leu |