Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74713432T>C , CM000678.2:g.74713432T>C | GRCh38 |
| NC_000016.9:g.74747330T>C , CM000678.1:g.74747330T>C | GRCh37 |
| NC_000016.8:g.73304831T>C | NCBI36 |
| NG_017070.1:g.66400A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.*758A>G MANE Select | ENSP00000219368.3:n.*758A>G | |
| ENST00000219368.7:c.*758A>G | ENSP00000219368.3:n.*758A>G | |
| ENST00000562145.1:n.1598A>G | ||
| NM_024306.4:c.*758A>G | NP_077282.3:n.*758A>G | |
| XM_011523319.1:c.*758A>G | XP_011521621.1:n.*758A>G | |
| XM_011523319.2:c.*758A>G | XP_011521621.1:n.*758A>G | |
| NM_024306.5:c.*758A>G MANE Select | NP_077282.3:n.*758A>G |