Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110644442G>T , CM000672.2:g.110644442G>T | GRCh38 |
| NC_000010.10:g.112404200G>T , CM000672.1:g.112404200G>T | GRCh37 |
| NC_000010.9:g.112394190G>T | NCBI36 |
| NG_021177.1:g.5046G>T , LRG_382:g.5046G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.-13G>T MANE Select | ENSP00000358532.3:n.-13G>T | |
| ENST00000369519.3:c.-13G>T | ENSP00000358532.3:n.-13G>T | |
| NM_001134363.2:c.-13G>T | NP_001127835.2:n.-13G>T | |
| XM_017016103.2:c.26+1002G>T | XP_016871592.1:n.26+1002G>T | |
| NM_001134363.3:c.-13G>T MANE Select | NP_001127835.2:n.-13G>T |