Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151297695G>T , CM000668.2:g.151297695G>T | GRCh38 |
| NC_000006.11:g.151618830G>T , CM000668.1:g.151618830G>T | GRCh37 |
| NC_000006.10:g.151660523G>T | NCBI36 |
| NG_029875.1:g.62697G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005100.4:c.163-8052G>T MANE Select | NP_005091.2:n.163-8052G>T |
| ENST00000402676.7:c.163-8052G>T MANE Select | ENSP00000384537.2:n.163-8052G>T |
| NM_005100.3:c.163-8052G>T | NP_005091.2:n.163-8052G>T |
| ENST00000253332.5:c.163-8052G>T | ENSP00000253332.1:n.163-8052G>T |
| ENST00000402676.6:c.163-8052G>T | ENSP00000384537.2:n.163-8052G>T |
| XM_005267233.1:c.163-8052G>T | XP_005267290.1:n.163-8052G>T |
| XM_017011517.2:c.163-8052G>T | XP_016867006.1:n.163-8052G>T |