Linked Data
dbSNP Id:
rs762688864
ExAC:
19:51363336 G / T
gnomAD v2:
19-51363336-G-T
gnomAD v4:
19-50860080-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50860080G>T , CM000681.2:g.50860080G>T | GRCh38 |
| NC_000019.9:g.51363336G>T , CM000681.1:g.51363336G>T | GRCh37 |
| NC_000019.8:g.56055148G>T | NCBI36 |
| NG_011653.1:g.10166G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.739G>T MANE Select | ENSP00000314151.1:p.Val247Leu | |
| ENST00000326003.6:c.739G>T | ENSP00000314151.1:p.Val247Leu | |
| ENST00000360617.7:c.1181G>T | ENSP00000353829.2:n.1181G>T | |
| ENST00000422986.6:c.*395G>T | ENSP00000393628.2:n.*395G>T | |
| ENST00000595392.5:c.*240G>T | ENSP00000468912.1:n.*240G>T | |
| ENST00000595952.5:c.610G>T | ENSP00000471155.1:p.Val204Leu | |
| ENST00000596333.1:n.917G>T | ||
| ENST00000598145.1:c.741G>T | ||
| ENST00000601349.5:n.2018G>T | ||
| ENST00000601812.1:n.1171G>T | ||
| ENST00000617027.4:c.616G>T | ENSP00000483513.1:p.Val206Leu | |
| NM_001030047.1:c.*464G>T | NP_001025218.1:n.*464G>T | |
| NM_001030048.1:c.610G>T | NP_001025219.1:p.Val204Leu | |
| NM_001648.2:c.739G>T MANE Select | NP_001639.1:p.Val247Leu | |
| XM_011526923.1:c.757G>T | XP_011525225.1:p.Val253Leu | |
| XR_935817.1:n.1324+826G>T |