Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69819264C>A , CM000673.2:g.69819264C>A | GRCh38 |
| NC_000011.9:g.69634032C>A , CM000673.1:g.69634032C>A | GRCh37 |
| NC_000011.8:g.69342969C>A | NCBI36 |
| NG_009016.1:g.5161G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005247.4:c.-331G>T MANE Select | NP_005238.1:n.-331G>T |
| ENST00000334134.4:c.-331G>T MANE Select | ENSP00000334122.2:n.-331G>T |
| NM_005247.2:c.-331G>T | NP_005238.1:n.-331G>T |
| XR_001748071.1:n.86+191C>A |