Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143352059C>T , CM000669.2:g.143352059C>T | GRCh38 |
| NC_000007.13:g.143049152C>T , CM000669.1:g.143049152C>T | GRCh37 |
| NC_000007.12:g.142759274C>T | NCBI36 |
| NG_009815.1:g.40934C>T | |
| NG_009815.2:g.40934C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.*94C>T | ENSP00000498052.2:n.*94C>T | |
| ENST00000343257.7:c.*94C>T MANE Select | ENSP00000339867.2:n.*94C>T | |
| ENST00000343257.6:c.*94C>T | ENSP00000339867.2:n.*94C>T | |
| XM_011515781.1:c.*94C>T | XP_011514083.1:n.*94C>T | |
| XM_011515782.1:c.*94C>T | XP_011514084.1:n.*94C>T | |
| NM_000083.3:c.*94C>T MANE Select | NP_000074.3:n.*94C>T | |
| NR_046453.2:n.3016C>T |