Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044128A>C , CM000674.2:g.5044128A>C | GRCh38 |
| NC_000012.11:g.5153294A>C , CM000674.1:g.5153294A>C | GRCh37 |
| NC_000012.10:g.5023555A>C | NCBI36 |
| NG_012198.1:g.5210A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252321.5:c.-20A>C MANE Select | ENSP00000252321.3:n.-20A>C | |
| ENST00000252321.4:c.-20A>C | ENSP00000252321.3:n.-20A>C | |
| NM_002234.3:c.-20A>C | NP_002225.2:n.-20A>C | |
| NM_002234.4:c.-20A>C MANE Select | NP_002225.2:n.-20A>C |