Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125420C>G , CM000666.2:g.55125420C>G | GRCh38 |
| NC_000004.11:g.55991587C>G , CM000666.1:g.55991587C>G | GRCh37 |
| NC_000004.10:g.55686344C>G | NCBI36 |
| NG_012004.1:g.5176G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.-127G>C MANE Select | ENSP00000263923.4:n.-127G>C | |
| ENST00000263923.4:c.-127G>C | ENSP00000263923.4:n.-127G>C | |
| NM_002253.2:c.-127G>C | NP_002244.1:n.-127G>C | |
| NM_002253.3:c.-127G>C | NP_002244.1:n.-127G>C | |
| NM_002253.4:c.-127G>C MANE Select | NP_002244.1:n.-127G>C |