Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176840G>C , CM000678.2:g.176840G>C | GRCh38 |
| NC_000016.9:g.226839G>C , CM000678.1:g.226839G>C | GRCh37 |
| NC_000016.8:g.166839G>C | NCBI36 |
| NG_000006.1:g.37703G>C | |
| NG_059186.1:g.5190G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.95+29G>C MANE Select | ENSP00000322421.5:n.95+29G>C | |
| ENST00000397797.1:c.-2+78G>C | ENSP00000380899.1:n.-2+78G>C | |
| ENST00000472694.1:n.143G>C | ||
| ENST00000487791.1:n.64+29G>C | ||
| NM_000558.4:c.95+29G>C | NP_000549.1:n.95+29G>C | |
| NM_000558.5:c.95+29G>C MANE Select | NP_000549.1:n.95+29G>C |