Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76371401T>C , CM000676.2:g.76371401T>C | GRCh38 |
| NC_000014.8:g.76837744T>C , CM000676.1:g.76837744T>C | GRCh37 |
| NC_000014.7:g.75907497T>C | NCBI36 |
| NG_012278.1:g.5055T>C | |
| NG_012278.2:g.5055T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380887.7:c.-317T>C | ENSP00000370270.2:n.-317T>C | |
| ENST00000505752.6:c.-317T>C | ENSP00000423004.1:n.-317T>C | |
| ENST00000512784.6:c.2+60485T>C | ENSP00000424992.2:n.2+60485T>C | |
| ENST00000505752.5:c.-317T>C | ENSP00000423004.1:n.-317T>C | |
| ENST00000512784.5:c.2+60485T>C | ENSP00000424992.1:n.2+60485T>C | |
| NM_004452.3:c.-317T>C | NP_004443.3:n.-317T>C | |
| XM_011536548.1:c.-317T>C | XP_011534850.1:n.-317T>C | |
| NM_004452.4:c.-317T>C | NP_004443.3:n.-317T>C |