Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102594495C>T , CM000673.2:g.102594495C>T | GRCh38 |
| NC_000011.9:g.102465226C>T , CM000673.1:g.102465226C>T | GRCh37 |
| NC_000011.8:g.101970436C>T | NCBI36 |
| NG_012151.1:g.35838G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004771.4:c.1090+126G>A MANE Select | NP_004762.2:n.1090+126G>A |
| ENST00000260228.3:c.1090+126G>A MANE Select | ENSP00000260228.2:n.1090+126G>A |
| NM_004771.3:c.1090+126G>A | NP_004762.2:n.1090+126G>A |
| ENST00000260228.2:c.1090+126G>A | ENSP00000260228.2:n.1090+126G>A |