Linked Data
dbSNP Id:
rs376036365
gnomAD v2:
4-187187105-A-G
gnomAD v3:
4-186265951-A-G
gnomAD v4:
4-186265951-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186265951A>G , CM000666.2:g.186265951A>G | GRCh38 |
| NC_000004.11:g.187187105A>G , CM000666.1:g.187187105A>G | GRCh37 |
| NC_000004.10:g.187424099A>G | NCBI36 |
| NG_008051.1:g.4988A>G , LRG_583:g.4988A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.6:c.-346A>G | ENSP00000384957.2:n.-346A>G | |
| XM_005262821.2:c.-346A>G | XP_005262878.1:n.-346A>G | |
| XM_005262822.2:c.-346A>G | XP_005262879.1:n.-346A>G | |
| XM_005262823.2:c.-346A>G | XP_005262880.1:n.-346A>G | |
| XM_005262824.1:c.-346A>G | XP_005262881.1:n.-346A>G | |
| XM_006714137.1:c.-346A>G | XP_006714200.1:n.-346A>G | |
| XR_938706.1:n.7A>G | ||
| XR_938707.1:n.7A>G |