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