Linked Data
dbSNP Id:
rs1383174658
gnomAD v2:
5-56153268-G-A
gnomAD v3:
5-56857441-G-A
gnomAD v4:
5-56857441-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56857441G>A , CM000667.2:g.56857441G>A | GRCh38 |
| NC_000005.9:g.56153268G>A , CM000667.1:g.56153268G>A | GRCh37 |
| NC_000005.8:g.56189025G>A | NCBI36 |
| NG_031884.1:g.47369G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.633+691G>A MANE Select | ENSP00000382423.3:n.633+691G>A | |
| ENST00000399503.3:c.633+691G>A | ENSP00000382423.3:n.633+691G>A | |
| NM_005921.1:c.633+691G>A | NP_005912.1:n.633+691G>A | |
| XM_005248519.3:c.255+691G>A | XP_005248576.2:n.255+691G>A | |
| XM_011543406.1:c.378+691G>A | XP_011541708.1:n.378+691G>A | |
| XM_011543407.1:c.633+691G>A | XP_011541709.1:n.633+691G>A | |
| XM_011543408.1:c.633+691G>A | XP_011541710.1:n.633+691G>A | |
| XM_017009484.1:c.222+691G>A | XP_016864973.1:n.222+691G>A | |
| XM_017009485.1:c.144+691G>A | XP_016864974.1:n.144+691G>A | |
| XR_001742068.2:n.664+691G>A | ||
| NM_005921.2:c.633+691G>A MANE Select | NP_005912.1:n.633+691G>A |