Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121448494G>A , CM000668.2:g.121448494G>A | GRCh38 |
| NC_000006.11:g.121769640G>A , CM000668.1:g.121769640G>A | GRCh37 |
| NC_000006.10:g.121811339G>A | NCBI36 |
| NG_008308.1:g.17896G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000165.5:c.*498G>A MANE Select | NP_000156.1:n.*498G>A |
| ENST00000282561.4:c.*498G>A MANE Select | ENSP00000282561.3:n.*498G>A |
| NM_000165.4:c.*498G>A | NP_000156.1:n.*498G>A |
| ENST00000282561.3:c.*498G>A | ENSP00000282561.3:n.*498G>A |
| ENST00000647564.1:c.*498G>A | ENSP00000497565.1:n.*498G>A |
| ENST00000649003.1:c.*498G>A | ENSP00000497283.1:n.*498G>A |
| ENST00000650427.1:c.*498G>A | ENSP00000497367.1:n.*498G>A |