Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659677G>C , CM000683.2:g.31659677G>C | GRCh38 |
| NC_000021.8:g.33031990G>C , CM000683.1:g.33031990G>C | GRCh37 |
| NC_000021.7:g.31953861G>C | NCBI36 |
| NG_008689.1:g.5056G>C , LRG_652:g.5056G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.10:c.-93G>C | ENSP00000270142.6:n.-93G>C | |
| ENST00000389995.4:c.-93G>C | ENSP00000374645.4:n.-93G>C | |
| NM_000454.4:c.-93G>C , LRG_652t1:c.-93G>C | NP_000445.1:n.-93G>C |