Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3927773G>A , CM000681.2:g.3927773G>A | GRCh38 |
| NC_000019.9:g.3927771G>A , CM000681.1:g.3927771G>A | GRCh37 |
| NC_000019.8:g.3878771G>A | NCBI36 |
| NG_012638.1:g.52154G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033064.5:c.*3181G>A MANE Select | NP_149053.1:n.*3181G>A |
| ENST00000450849.7:c.*3181G>A MANE Select | ENSP00000390941.1:n.*3181G>A |
| NM_033064.4:c.*3181G>A | NP_149053.1:n.*3181G>A |
| ENST00000450849.6:c.*3181G>A | ENSP00000390941.1:n.*3181G>A |