Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74713473G>A , CM000678.2:g.74713473G>A | GRCh38 |
| NC_000016.9:g.74747371G>A , CM000678.1:g.74747371G>A | GRCh37 |
| NC_000016.8:g.73304872G>A | NCBI36 |
| NG_017070.1:g.66359C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.*717C>T MANE Select | ENSP00000219368.3:n.*717C>T | |
| ENST00000219368.7:c.*717C>T | ENSP00000219368.3:n.*717C>T | |
| ENST00000562145.1:n.1557C>T | ||
| NM_024306.4:c.*717C>T | NP_077282.3:n.*717C>T | |
| XM_011523319.1:c.*717C>T | XP_011521621.1:n.*717C>T | |
| XM_011523319.2:c.*717C>T | XP_011521621.1:n.*717C>T | |
| NM_024306.5:c.*717C>T MANE Select | NP_077282.3:n.*717C>T |