Linked Data
dbSNP Id:
rs778792899
ExAC:
1:16381980 C / T
gnomAD v2:
1-16381980-C-T
gnomAD v3:
1-16055485-C-T
gnomAD v4:
1-16055485-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16055485C>T , CM000663.2:g.16055485C>T | GRCh38 |
| NC_000001.10:g.16381980C>T , CM000663.1:g.16381980C>T | GRCh37 |
| NC_000001.9:g.16254567C>T | NCBI36 |
| NG_013079.1:g.16734C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1807C>T | ENSP00000507062.1:p.Leu603= | |
| ENST00000682793.1:c.1807C>T | ENSP00000506910.1:p.Leu603= | |
| ENST00000682838.1:c.*1549C>T | ENSP00000507652.1:n.*1549C>T | |
| ENST00000683578.1:c.1807C>T | ENSP00000507430.1:p.Leu603= | |
| ENST00000683606.1:n.1413C>T | ||
| ENST00000683661.1:n.3342C>T | ||
| ENST00000684324.1:c.1807C>T | ENSP00000507937.1:p.Leu603= | |
| ENST00000684545.1:c.1807C>T | ENSP00000506733.1:p.Leu603= | |
| ENST00000684624.1:n.1184C>T | ||
| ENST00000684714.1:c.*27C>T | ENSP00000506861.1:n.*27C>T | |
| ENST00000684731.1:n.1134C>T | ||
| ENST00000375679.9:c.1807C>T MANE Select | ENSP00000364831.5:p.Leu603= | |
| ENST00000375667.7:c.1300C>T | ENSP00000364819.3:p.Leu434= | |
| ENST00000375679.8:c.1807C>T | ENSP00000364831.4:p.Leu603= | |
| ENST00000431772.1:c.274C>T | ENSP00000389344.1:p.Leu92= | |
| ENST00000619181.4:c.1294-1702C>T | ENSP00000483866.1:n.1294-1702C>T | |
| NM_000085.4:c.1807C>T | NP_000076.2:p.Leu603= | |
| NM_001165945.2:c.1300C>T | NP_001159417.2:p.Leu434= | |
| XM_011540619.1:c.1648C>T | XP_011538921.1:p.Leu550= | |
| XM_011540621.1:c.1156C>T | XP_011538923.1:p.Leu386= | |
| NM_000085.5:c.1807C>T MANE Select | NP_000076.2:p.Leu603= |