Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.52897294A>C , CM000667.2:g.52897294A>C | GRCh38 |
| NC_000005.9:g.52193125A>C , CM000667.1:g.52193125A>C | GRCh37 |
| NC_000005.8:g.52228882A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282588.7:c.1091-161A>C MANE Select | ENSP00000282588.5:n.1091-161A>C | |
| ENST00000650673.1:c.*253-161A>C | ENSP00000498529.1:n.*253-161A>C | |
| ENST00000282588.6:c.1091-161A>C | ENSP00000282588.5:n.1091-161A>C | |
| NM_181501.1:c.1091-161A>C | NP_852478.1:n.1091-161A>C | |
| NM_181501.2:c.1091-161A>C MANE Select | NP_852478.1:n.1091-161A>C |