Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67065939G>C , CM000677.2:g.67065939G>C | GRCh38 |
| NC_000015.9:g.67358277G>C , CM000677.1:g.67358277G>C | GRCh37 |
| NC_000015.8:g.65145331G>C | NCBI36 |
| NG_011990.1:g.5083G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559460.6:c.-110+1995G>C | ENSP00000453082.2:n.-110+1995G>C | |
| ENST00000560424.2:c.-216G>C | ENSP00000455540.2:n.-216G>C | |
| ENST00000327367.9:c.-216G>C MANE Select | ENSP00000332973.4:n.-216G>C | |
| ENST00000327367.8:c.-216G>C | ENSP00000332973.4:n.-216G>C | |
| ENST00000559460.5:c.-110+1995G>C | ENSP00000453082.1:n.-110+1995G>C | |
| NM_005902.3:c.-216G>C | NP_005893.1:n.-216G>C | |
| XM_011521559.1:c.-216G>C | XP_011519861.1:n.-216G>C | |
| NM_005902.4:c.-216G>C MANE Select | NP_005893.1:n.-216G>C |