Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829630A>C , CM000685.2:g.68829630A>C | GRCh38 |
| NC_000023.10:g.68049473A>C , CM000685.1:g.68049473A>C | GRCh37 |
| NC_000023.9:g.67966198A>C | NCBI36 |
| NG_008887.1:g.5634A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.-147A>C MANE Select | ENSP00000204961.4:n.-147A>C | |
| ENST00000204961.4:c.-147A>C | ENSP00000204961.4:n.-147A>C | |
| NM_004429.4:c.-147A>C | NP_004420.1:n.-147A>C | |
| NM_004429.5:c.-147A>C MANE Select | NP_004420.1:n.-147A>C |