Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044130G>C , CM000674.2:g.5044130G>C | GRCh38 |
| NC_000012.11:g.5153296G>C , CM000674.1:g.5153296G>C | GRCh37 |
| NC_000012.10:g.5023557G>C | NCBI36 |
| NG_012198.1:g.5212G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252321.5:c.-18G>C MANE Select | ENSP00000252321.3:n.-18G>C | |
| ENST00000252321.4:c.-18G>C | ENSP00000252321.3:n.-18G>C | |
| NM_002234.3:c.-18G>C | NP_002225.2:n.-18G>C | |
| NM_002234.4:c.-18G>C MANE Select | NP_002225.2:n.-18G>C |