Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52186416A>G , CM000668.2:g.52186416A>G | GRCh38 |
| NC_000006.11:g.52051214A>G , CM000668.1:g.52051214A>G | GRCh37 |
| NC_000006.10:g.52159173A>G | NCBI36 |
| NG_033021.1:g.5030A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648244.1:c.-16A>G MANE Select | ENSP00000497968.1:n.-16A>G | |
| ENST00000340057.1:c.-16A>G | ENSP00000344192.1:n.-16A>G | |
| NM_002190.2:c.-16A>G | NP_002181.1:n.-16A>G | |
| NM_002190.3:c.-16A>G MANE Select | NP_002181.1:n.-16A>G |