Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124746716C>A , CM000665.2:g.124746716C>A | GRCh38 |
| NC_000003.11:g.124465563C>A , CM000665.1:g.124465563C>A | GRCh37 |
| NC_000003.10:g.125948253C>A | NCBI36 |
| NG_017037.1:g.21351C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232607.7:c.*2632C>A MANE Select | ENSP00000232607.2:n.*2632C>A | |
| ENST00000232607.6:c.*2632C>A | ENSP00000232607.2:n.*2632C>A | |
| NM_000373.3:c.*2632C>A | NP_000364.1:n.*2632C>A | |
| NR_033434.1:n.4027C>A | ||
| NR_033437.1:n.4280C>A | ||
| XR_001740253.2:n.4309C>A | ||
| NM_000373.4:c.*2632C>A MANE Select | NP_000364.1:n.*2632C>A | |
| NR_033434.2:n.3941C>A | ||
| NR_033437.2:n.4194C>A |