Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113117862C= , CM000664.2:g.113117862C= | GRCh38 |
| NC_000002.11:g.113875439C= , CM000664.1:g.113875439C= | GRCh37 |
| NC_000002.10:g.113591910C= | NCBI36 |
| NG_021240.1:g.4970C= , LRG_188:g.4970C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-272-2204C= | ENSP00000387210.1:n.-272-2204C= | |
| ENST00000465812.6:n.775+197C= | ||
| ENST00000409052.5:c.-272-2204C= | ENSP00000387210.1:n.-272-2204C= | |
| XM_011511121.1:c.-272-2204C= | XP_011509423.1:n.-272-2204C= |