Linked Data
dbSNP Id:
rs1419529834
gnomAD v2:
19-51363108-C-G
gnomAD v3:
19-50859852-C-G
gnomAD v4:
19-50859852-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50859852C>G , CM000681.2:g.50859852C>G | GRCh38 |
| NC_000019.9:g.51363108C>G , CM000681.1:g.51363108C>G | GRCh37 |
| NC_000019.8:g.56054920C>G | NCBI36 |
| NG_011653.1:g.9938C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.631-120C>G MANE Select | ENSP00000314151.1:n.631-120C>G | |
| ENST00000326003.6:c.631-120C>G | ENSP00000314151.1:n.631-120C>G | |
| ENST00000360617.7:c.953C>G | ENSP00000353829.2:n.953C>G | |
| ENST00000422986.6:c.*287-120C>G | ENSP00000393628.2:n.*287-120C>G | |
| ENST00000595392.5:c.*132-120C>G | ENSP00000468912.1:n.*132-120C>G | |
| ENST00000595952.5:c.502-120C>G | ENSP00000471155.1:n.502-120C>G | |
| ENST00000596185.5:c.*739-120C>G | ENSP00000471648.1:n.*739-120C>G | |
| ENST00000596333.1:n.809-120C>G | ||
| ENST00000598145.1:c.633-120C>G | ||
| ENST00000601349.5:n.1910-120C>G | ||
| ENST00000601812.1:n.1063-120C>G | ||
| ENST00000617027.4:c.508-120C>G | ENSP00000483513.1:n.508-120C>G | |
| NM_001030047.1:c.*236C>G | NP_001025218.1:n.*236C>G | |
| NM_001030048.1:c.502-120C>G | NP_001025219.1:n.502-120C>G | |
| NM_001648.2:c.631-120C>G MANE Select | NP_001639.1:n.631-120C>G | |
| XM_011526923.1:c.649-120C>G | XP_011525225.1:n.649-120C>G | |
| XM_011526924.1:c.*236C>G | XP_011525226.1:n.*236C>G | |
| XR_935817.1:n.1324+598C>G |