Linked Data
dbSNP Id:
rs1251078
gnomAD v2:
1-76189488-C-G
gnomAD v3:
1-75723803-C-G
gnomAD v4:
1-75723803-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75723803C>G , CM000663.2:g.75723803C>G | GRCh38 |
| NC_000001.10:g.76189488C>G , CM000663.1:g.76189488C>G | GRCh37 |
| NC_000001.9:g.75962076C>G | NCBI36 |
| NG_007045.2:g.4446C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433521.2:n.71-15G>C | ||
| ENST00000648424.1:n.108+139G>C | ||
| XM_011540981.1:c.-1060G>C | XP_011539283.1:n.-1060G>C | |
| XM_011540982.1:c.-1180G>C | XP_011539284.1:n.-1180G>C | |
| XM_011540984.1:c.-1176G>C | XP_011539286.1:n.-1176G>C | |
| XM_017000609.1:c.-1030G>C | XP_016856098.1:n.-1030G>C | |
| XM_017000610.1:c.-247+139G>C | XP_016856099.1:n.-247+139G>C |