Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73441939G>A , CM000669.2:g.73441939G>A | GRCh38 |
| NC_000007.13:g.72856269G>A , CM000669.1:g.72856269G>A | GRCh37 |
| NC_000007.12:g.72494205G>A | NCBI36 |
| NG_027679.1:g.85347C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032408.4:c.*15+242C>T MANE Select | NP_115784.1:n.*15+242C>T |
| ENST00000339594.9:c.*15+242C>T MANE Select | ENSP00000342434.4:n.*15+242C>T |
| NM_001370402.1:c.*257C>T | NP_001357331.1:n.*257C>T |
| NM_032408.3:c.*15+242C>T | NP_115784.1:n.*15+242C>T |
| ENST00000339594.8:c.*15+242C>T | ENSP00000342434.4:n.*15+242C>T |
| ENST00000404251.1:c.*257C>T | ENSP00000385442.1:n.*257C>T |
| XM_017012773.2:c.*257C>T | XP_016868262.1:n.*257C>T |