Linked Data
dbSNP Id:
rs750445991
ExAC:
8:42587712 T / G
gnomAD v2:
8-42587712-T-G
gnomAD v4:
8-42732569-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42732569T>G , CM000670.2:g.42732569T>G | GRCh38 |
| NC_000008.10:g.42587712T>G , CM000670.1:g.42587712T>G | GRCh37 |
| NC_000008.9:g.42706869T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289957.3:c.1242+20T>G MANE Select | ENSP00000289957.2:n.1242+20T>G | |
| ENST00000289957.2:c.1242+20T>G | ENSP00000289957.2:n.1242+20T>G | |
| NM_000749.3:c.1242+20T>G | NP_000740.1:n.1242+20T>G | |
| XM_011544390.1:c.855+20T>G | XP_011542692.1:n.855+20T>G | |
| NM_000749.4:c.1242+20T>G | NP_000740.1:n.1242+20T>G | |
| NM_001347717.1:c.1020+20T>G | NP_001334646.1:n.1020+20T>G | |
| XM_011544390.2:c.855+20T>G | XP_011542692.1:n.855+20T>G | |
| NM_000749.5:c.1242+20T>G MANE Select | NP_000740.1:n.1242+20T>G | |
| NM_001347717.2:c.1020+20T>G | NP_001334646.1:n.1020+20T>G |