Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956619G>C , CM000670.2:g.24956619G>C | GRCh38 |
| NC_000008.10:g.24814133G>C , CM000670.1:g.24814133G>C | GRCh37 |
| NC_000008.9:g.24870050G>C | NCBI36 |
| NG_008492.1:g.4999C>G , LRG_259:g.4999C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.1:c.-104C>G | ENSP00000482169.1:n.-104C>G | |
| ENST00000615973.1:n.103C>G | ||
| NM_006158.4:c.-104C>G , LRG_259t1:c.-104C>G | NP_006149.2:n.-104C>G |