Linked Data
dbSNP Id:
rs1360796956
gnomAD v2:
8-42587985-C-A
gnomAD v3:
8-42732842-C-A
gnomAD v4:
8-42732842-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42732842C>A , CM000670.2:g.42732842C>A | GRCh38 |
| NC_000008.10:g.42587985C>A , CM000670.1:g.42587985C>A | GRCh37 |
| NC_000008.9:g.42707142C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289957.3:c.1242+293C>A MANE Select | ENSP00000289957.2:n.1242+293C>A | |
| ENST00000289957.2:c.1242+293C>A | ENSP00000289957.2:n.1242+293C>A | |
| NM_000749.3:c.1242+293C>A | NP_000740.1:n.1242+293C>A | |
| XM_011544390.1:c.855+293C>A | XP_011542692.1:n.855+293C>A | |
| NM_000749.4:c.1242+293C>A | NP_000740.1:n.1242+293C>A | |
| NM_001347717.1:c.1020+293C>A | NP_001334646.1:n.1020+293C>A | |
| XM_011544390.2:c.855+293C>A | XP_011542692.1:n.855+293C>A | |
| NM_000749.5:c.1242+293C>A MANE Select | NP_000740.1:n.1242+293C>A | |
| NM_001347717.2:c.1020+293C>A | NP_001334646.1:n.1020+293C>A |