Linked Data
dbSNP Id:
rs7568369
gnomAD v2:
2-208031315-G-T
gnomAD v3:
2-207166591-G-T
gnomAD v4:
2-207166591-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.207166591G>T , CM000664.2:g.207166591G>T | GRCh38 |
| NC_000002.11:g.208031315G>T , CM000664.1:g.208031315G>T | GRCh37 |
| NC_000002.10:g.207739560G>T | NCBI36 |
| NG_052989.1:g.5656C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703736.1:c.3+549C>A | ENSP00000515456.1:n.3+549C>A | |
| ENST00000421199.5:c.3+549C>A | ENSP00000387510.1:n.3+549C>A | |
| ENST00000423015.5:c.-139+166C>A | ENSP00000398572.1:n.-139+166C>A | |
| ENST00000457962.5:c.-139+403C>A | ENSP00000392015.1:n.-139+403C>A | |
| NM_001270942.1:c.-139+166C>A | NP_001257871.1:n.-139+166C>A | |
| NM_001270943.1:c.3+549C>A | NP_001257872.1:n.3+549C>A | |
| XM_006712815.2:c.-139+166C>A | XP_006712878.1:n.-139+166C>A | |
| XM_011512072.1:c.-139+403C>A | XP_011510374.1:n.-139+403C>A | |
| XM_011512074.1:c.3+549C>A | XP_011510376.1:n.3+549C>A | |
| XM_006712815.3:c.-139+166C>A | XP_006712878.1:n.-139+166C>A | |
| XM_011512072.2:c.-139+403C>A | XP_011510374.1:n.-139+403C>A | |
| XM_011512074.2:c.3+549C>A | XP_011510376.1:n.3+549C>A | |
| XM_024453196.1:c.3+549C>A | XP_024308964.1:n.3+549C>A | |
| NM_001270943.2:c.3+549C>A | NP_001257872.1:n.3+549C>A |