Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851371A>C , CM000668.2:g.131851371A>C | GRCh38 |
| NC_000006.11:g.132172511A>C , CM000668.1:g.132172511A>C | GRCh37 |
| NC_000006.10:g.132214204A>C | NCBI36 |
| NG_008206.1:g.48356A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.556+104A>C MANE Select | ENSP00000498074.1:n.556+104A>C | |
| ENST00000650147.1:c.234+104A>C | ||
| ENST00000650437.1:c.108+1265A>C | ||
| ENST00000360971.6:c.556+104A>C | ENSP00000354238.2:n.556+104A>C | |
| ENST00000486853.1:n.680A>C | ||
| ENST00000513998.5:c.556+104A>C | ENSP00000422424.1:n.556+104A>C | |
| NM_006208.2:c.556+104A>C | NP_006199.2:n.556+104A>C | |
| NM_006208.3:c.556+104A>C MANE Select | NP_006199.2:n.556+104A>C |