Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887378A>T , CM000664.2:g.43887378A>T | GRCh38 |
| NC_000002.11:g.44114517A>T , CM000664.1:g.44114517A>T | GRCh37 |
| NC_000002.10:g.43968021A>T | NCBI36 |
| NG_008247.1:g.113628T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2174T>A | ||
| ENST00000684454.1:n.9271T>A | ||
| ENST00000260665.12:c.*1222T>A MANE Select | ENSP00000260665.7:n.*1222T>A | |
| ENST00000260665.11:c.*1222T>A | ENSP00000260665.7:n.*1222T>A | |
| NM_133259.3:c.*1222T>A | NP_573566.2:n.*1222T>A | |
| XR_002958896.1:n.5589T>A | ||
| NM_133259.4:c.*1222T>A MANE Select | NP_573566.2:n.*1222T>A |