Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113117825C>A , CM000664.2:g.113117825C>A | GRCh38 |
| NC_000002.11:g.113875402C>A , CM000664.1:g.113875402C>A | GRCh37 |
| NC_000002.10:g.113591873C>A | NCBI36 |
| NG_021240.1:g.4933C>A , LRG_188:g.4933C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-272-2241C>A | ENSP00000387210.1:n.-272-2241C>A | |
| ENST00000465812.6:n.775+160C>A | ||
| ENST00000409052.5:c.-272-2241C>A | ENSP00000387210.1:n.-272-2241C>A | |
| XM_011511121.1:c.-272-2241C>A | XP_011509423.1:n.-272-2241C>A |