dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108250412T>G , CM000674.2:g.108250412T>G | GRCh38 |
| NC_000012.11:g.108644189T>G , CM000674.1:g.108644189T>G | GRCh37 |
| NC_000012.10:g.107168319T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547525.6:c.*2069T>G MANE Select | ENSP00000448047.1:n.*2069T>G | |
| ENST00000332082.8:c.*2069T>G | ENSP00000331933.4:n.*2069T>G | |
| NM_001304447.1:c.*2069T>G | NP_001291376.1:n.*2069T>G | |
| NM_014653.3:c.*2069T>G | NP_055468.2:n.*2069T>G | |
| NM_014653.4:c.*2069T>G MANE Select | NP_055468.2:n.*2069T>G | |
| NM_001304447.2:c.*2069T>G | NP_001291376.1:n.*2069T>G |