Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113117827C>T , CM000664.2:g.113117827C>T | GRCh38 |
| NC_000002.11:g.113875404C>T , CM000664.1:g.113875404C>T | GRCh37 |
| NC_000002.10:g.113591875C>T | NCBI36 |
| NG_021240.1:g.4935C>T , LRG_188:g.4935C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-272-2239C>T | ENSP00000387210.1:n.-272-2239C>T | |
| ENST00000465812.6:n.775+162C>T | ||
| ENST00000409052.5:c.-272-2239C>T | ENSP00000387210.1:n.-272-2239C>T | |
| XM_011511121.1:c.-272-2239C>T | XP_011509423.1:n.-272-2239C>T |