Linked Data
dbSNP Id:
rs17665859
gnomAD v2:
8-445601-T-C
gnomAD v3:
8-495601-T-C
gnomAD v4:
8-495601-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.495601T>C , CM000670.2:g.495601T>C | GRCh38 |
| NC_000008.10:g.445601T>C , CM000670.1:g.445601T>C | GRCh37 |
| NC_000008.9:g.435601T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324079.11:c.109-1004A>G MANE Select | ENSP00000315111.6:n.109-1004A>G | |
| ENST00000324079.10:c.109-1004A>G | ENSP00000315111.6:n.109-1004A>G | |
| ENST00000427263.6:c.109-1004A>G | ENSP00000408126.2:n.109-1004A>G | |
| ENST00000523656.5:c.109-1004A>G | ENSP00000430325.1:n.109-1004A>G | |
| ENST00000613071.1:c.109-1004A>G | ENSP00000479558.1:n.109-1004A>G | |
| NM_001256113.1:c.109-1004A>G | NP_001243042.1:n.109-1004A>G | |
| NM_175075.4:c.109-1004A>G | NP_778250.2:n.109-1004A>G | |
| XM_006716232.2:c.109-1004A>G | XP_006716295.1:n.109-1004A>G | |
| XM_011534717.1:c.211-1004A>G | XP_011533019.1:n.211-1004A>G | |
| XM_011534718.1:c.145-1004A>G | XP_011533020.1:n.145-1004A>G | |
| XM_011534719.1:c.139-1004A>G | XP_011533021.1:n.139-1004A>G | |
| XM_011534720.1:c.109-1004A>G | XP_011533022.1:n.109-1004A>G | |
| XM_011534721.1:c.4-1004A>G | XP_011533023.1:n.4-1004A>G | |
| XM_011534722.1:c.211-1004A>G | XP_011533024.1:n.211-1004A>G | |
| XM_011534724.1:c.232-1004A>G | XP_011533026.1:n.232-1004A>G | |
| XM_011534725.1:c.232-1004A>G | XP_011533027.1:n.232-1004A>G | |
| XR_941338.1:n.226-1004A>G | ||
| XM_006716232.4:c.109-1004A>G | XP_006716295.1:n.109-1004A>G | |
| XM_017013113.2:c.139-1004A>G | XP_016868602.1:n.139-1004A>G | |
| NM_001369716.1:c.139-1004A>G | NP_001356645.1:n.139-1004A>G | |
| NM_001256113.2:c.109-1004A>G | NP_001243042.1:n.109-1004A>G | |
| NM_001384899.1:c.109-1004A>G MANE Select | NP_001371828.1:n.109-1004A>G | |
| NM_175075.5:c.109-1004A>G | NP_778250.2:n.109-1004A>G |