Linked Data
dbSNP Id:
rs2009658
gnomAD v2:
6-31538244-C-G
gnomAD v3:
6-31570467-C-G
gnomAD v4:
6-31570467-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31570467C>G , CM000668.2:g.31570467C>G | GRCh38 |
| NC_000006.11:g.31538244C>G , CM000668.1:g.31538244C>G | GRCh37 |
| NC_000006.10:g.31646223C>G | NCBI36 |
| NG_012010.1:g.3369C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011514614.1:c.-341-1025C>G | XP_011512916.1:n.-341-1025C>G | |
| XM_011514615.1:c.-341-1025C>G | XP_011512917.1:n.-341-1025C>G | |
| XM_011514616.1:c.-177-1668C>G | XP_011512918.1:n.-177-1668C>G | |
| XM_011514617.1:c.-341-1025C>G | XP_011512919.1:n.-341-1025C>G | |
| XM_011514618.1:c.-341-1025C>G | XP_011512920.1:n.-341-1025C>G | |
| XR_926695.1:n.116+2116G>C | ||
| NR_149045.1:n.121+2116G>C | ||
| XM_011514615.2:c.-341-1025C>G | XP_011512917.1:n.-341-1025C>G | |
| XM_011514616.2:c.-177-1668C>G | XP_011512918.1:n.-177-1668C>G | |
| XM_011514617.2:c.-341-1025C>G | XP_011512919.1:n.-341-1025C>G |