Linked Data
dbSNP Id:
rs752193560
ExAC:
19:51363366 A / G
gnomAD v2:
19-51363366-A-G
gnomAD v4:
19-50860110-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50860110A>G , CM000681.2:g.50860110A>G | GRCh38 |
| NC_000019.9:g.51363366A>G , CM000681.1:g.51363366A>G | GRCh37 |
| NC_000019.8:g.56055178A>G | NCBI36 |
| NG_011653.1:g.10196A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.769A>G MANE Select | ENSP00000314151.1:p.Ile257Val | |
| ENST00000326003.6:c.769A>G | ENSP00000314151.1:p.Ile257Val | |
| ENST00000360617.7:c.1211A>G | ENSP00000353829.2:n.1211A>G | |
| ENST00000422986.6:c.*425A>G | ENSP00000393628.2:n.*425A>G | |
| ENST00000595392.5:c.*270A>G | ENSP00000468912.1:n.*270A>G | |
| ENST00000595952.5:c.640A>G | ENSP00000471155.1:p.Ile214Val | |
| ENST00000596333.1:n.947A>G | ||
| ENST00000598145.1:c.771A>G | ||
| ENST00000601349.5:n.2048A>G | ||
| ENST00000601812.1:n.1201A>G | ||
| ENST00000617027.4:c.646A>G | ENSP00000483513.1:p.Ile216Val | |
| NM_001030047.1:c.*494A>G | NP_001025218.1:n.*494A>G | |
| NM_001030048.1:c.640A>G | NP_001025219.1:p.Ile214Val | |
| NM_001648.2:c.769A>G MANE Select | NP_001639.1:p.Ile257Val | |
| XM_011526923.1:c.787A>G | XP_011525225.1:p.Ile263Val | |
| XR_935817.1:n.1324+856A>G |