Linked Data
dbSNP Id:
rs769439514
ExAC:
19:51361403 C / T
gnomAD v2:
19-51361403-C-T
gnomAD v3:
19-50858147-C-T
gnomAD v4:
19-50858147-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50858147C>T , CM000681.2:g.50858147C>T | GRCh38 |
| NC_000019.9:g.51361403C>T , CM000681.1:g.51361403C>T | GRCh37 |
| NC_000019.8:g.56053215C>T | NCBI36 |
| NG_011653.1:g.8233C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.325C>T MANE Select | ENSP00000314151.1:p.Arg109Ter | |
| ENST00000326003.6:c.325C>T | ENSP00000314151.1:p.Arg109Ter | |
| ENST00000360617.7:c.325C>T | ENSP00000353829.2:p.Arg109Ter | |
| ENST00000422986.6:c.265-11C>T | ENSP00000393628.2:n.265-11C>T | |
| ENST00000593997.5:c.325C>T | ENSP00000472907.1:p.Arg109Ter | |
| ENST00000595392.5:c.325C>T | ENSP00000468912.1:p.Arg109Ter | |
| ENST00000595952.5:c.207-11C>T | ENSP00000471155.1:n.207-11C>T | |
| ENST00000596185.5:c.*433C>T | ENSP00000471648.1:n.*433C>T | |
| ENST00000596333.1:n.360C>T | ||
| ENST00000597286.5:c.214C>T | ENSP00000470523.1:p.Arg72Ter | |
| ENST00000597483.5:c.207-11C>T | ENSP00000472411.1:n.207-11C>T | |
| ENST00000598145.1:c.309C>T | ||
| ENST00000601349.5:n.1604C>T | ||
| ENST00000601503.5:c.268C>T | ENSP00000472213.1:p.Arg90Ter | |
| ENST00000601812.1:n.757C>T | ||
| ENST00000617027.4:c.325C>T | ENSP00000483513.1:p.Arg109Ter | |
| NM_001030047.1:c.325C>T | NP_001025218.1:p.Arg109Ter | |
| NM_001030048.1:c.207-11C>T | NP_001025219.1:n.207-11C>T | |
| NM_001648.2:c.325C>T MANE Select | NP_001639.1:p.Arg109Ter | |
| XM_011526923.1:c.325C>T | XP_011525225.1:p.Arg109Ter | |
| XM_011526924.1:c.325C>T | XP_011525226.1:p.Arg109Ter | |
| XR_935817.1:n.360C>T |