Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.93954069C>A , CM000671.2:g.93954069C>A | GRCh38 |
| NC_000009.11:g.96716351C>A , CM000671.1:g.96716351C>A | GRCh37 |
| NC_000009.10:g.95756172C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253968.11:c.223+855G>T MANE Select | ENSP00000253968.5:n.223+855G>T | |
| ENST00000253968.10:c.223+855G>T | ENSP00000253968.5:n.223+855G>T | |
| NM_021570.3:c.223+855G>T | NP_067545.3:n.223+855G>T | |
| NM_021570.4:c.223+855G>T MANE Select | NP_067545.3:n.223+855G>T |