Linked Data
dbSNP Id:
rs12773465
gnomAD v2:
10-98794059-A-G
gnomAD v3:
10-97034302-A-G
gnomAD v4:
10-97034302-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97034302A>G , CM000672.2:g.97034302A>G | GRCh38 |
| NC_000010.10:g.98794059A>G , CM000672.1:g.98794059A>G | GRCh37 |
| NC_000010.9:g.98784049A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266058.9:c.2438+169T>C MANE Select | ENSP00000266058.4:n.2438+169T>C | |
| ENST00000266058.8:c.2438+169T>C | ENSP00000266058.4:n.2438+169T>C | |
| ENST00000371070.8:c.2438+169T>C | ENSP00000360109.4:n.2438+169T>C | |
| NM_003061.2:c.2438+169T>C | NP_003052.2:n.2438+169T>C | |
| NM_003061.3:c.2438+169T>C MANE Select | NP_003052.2:n.2438+169T>C |