Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49455111G>A , CM000672.2:g.49455111G>A | GRCh38 |
| NC_000010.10:g.50663157G>A , CM000672.1:g.50663157G>A | GRCh37 |
| NC_000010.9:g.50333163G>A | NCBI36 |
| NG_009442.1:g.88991C>T , LRG_465:g.88991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.*3704C>T MANE Select | ENSP00000348089.5:n.*3704C>T | |
| ENST00000679871.1:n.5332C>T | ||
| ENST00000679974.1:n.5235C>T | ||
| ENST00000681632.1:n.9589C>T | ||
| ENST00000681659.1:c.*3704C>T | ENSP00000505631.1:n.*3704C>T | |
| NM_000124.3:c.*3704C>T | NP_000115.1:n.*3704C>T | |
| XR_945953.1:n.243-16454G>A | ||
| NM_001346440.1:c.*3704C>T | NP_001333369.1:n.*3704C>T | |
| NM_000124.4:c.*3704C>T MANE Select | NP_000115.1:n.*3704C>T | |
| NM_001346440.2:c.*3704C>T | NP_001333369.1:n.*3704C>T |