Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97040342G>T , CM000672.2:g.97040342G>T | GRCh38 |
| NC_000010.10:g.98800099G>T , CM000672.1:g.98800099G>T | GRCh37 |
| NC_000010.9:g.98790089G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003061.3:c.2165-222C>A MANE Select | NP_003052.2:n.2165-222C>A |
| ENST00000266058.9:c.2165-222C>A MANE Select | ENSP00000266058.4:n.2165-222C>A |
| NM_003061.2:c.2165-222C>A | NP_003052.2:n.2165-222C>A |
| ENST00000266058.8:c.2165-222C>A | ENSP00000266058.4:n.2165-222C>A |
| ENST00000314867.9:c.2144-222C>A | ENSP00000315005.5:n.2144-222C>A |
| ENST00000371070.8:c.2165-222C>A | ENSP00000360109.4:n.2165-222C>A |