Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135907300G>A , CM000664.2:g.135907300G>A | GRCh38 |
| NC_000002.11:g.136664870G>A , CM000664.1:g.136664870G>A | GRCh37 |
| NC_000002.10:g.136381340G>A | NCBI36 |
| NG_034149.1:g.83385C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264161.9:c.*16C>T MANE Select | ENSP00000264161.4:n.*16C>T | |
| ENST00000264161.8:c.*16C>T | ENSP00000264161.4:n.*16C>T | |
| ENST00000422708.3:c.583C>T | ENSP00000387508.1:n.583C>T | |
| ENST00000478212.5:n.416C>T | ||
| ENST00000489964.5:n.771C>T | ||
| NM_001293312.1:c.*16C>T | NP_001280241.1:n.*16C>T | |
| NM_001349.3:c.*16C>T | NP_001340.2:n.*16C>T | |
| NM_001349.4:c.*16C>T MANE Select | NP_001340.2:n.*16C>T |