Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45710969G>A , CM000669.2:g.45710969G>A | GRCh38 |
| NC_000007.13:g.45750568G>A , CM000669.1:g.45750568G>A | GRCh37 |
| NC_000007.12:g.45717093G>A | NCBI36 |
| NG_034198.1:g.141830G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021116.4:c.3057+317G>A MANE Select | NP_066939.1:n.3057+317G>A |
| ENST00000297323.12:c.3057+317G>A MANE Select | ENSP00000297323.7:n.3057+317G>A |
| NM_021116.2:c.3057+317G>A | NP_066939.1:n.3057+317G>A |
| NM_021116.3:c.3057+317G>A | NP_066939.1:n.3057+317G>A |
| ENST00000297323.11:c.3057+317G>A | ENSP00000297323.7:n.3057+317G>A |
| XM_005249584.2:c.2932+2505G>A | XP_005249641.1:n.2932+2505G>A |
| XM_005249584.3:c.2932+2505G>A | XP_005249641.1:n.2932+2505G>A |