Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125517G>T , CM000666.2:g.55125517G>T | GRCh38 |
| NC_000004.11:g.55991684G>T , CM000666.1:g.55991684G>T | GRCh37 |
| NC_000004.10:g.55686441G>T | NCBI36 |
| NG_012004.1:g.5079C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.-224C>A MANE Select | ENSP00000263923.4:n.-224C>A | |
| ENST00000263923.4:c.-224C>A | ENSP00000263923.4:n.-224C>A | |
| NM_002253.2:c.-224C>A | NP_002244.1:n.-224C>A | |
| NM_002253.3:c.-224C>A | NP_002244.1:n.-224C>A | |
| NM_002253.4:c.-224C>A MANE Select | NP_002244.1:n.-224C>A |