Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27492549C>T , CM000664.2:g.27492549C>T | GRCh38 |
| NC_000002.11:g.27715416C>T , CM000664.1:g.27715416C>T | GRCh37 |
| NC_000002.10:g.27568920C>T | NCBI36 |
| NG_028024.1:g.711C>T | |
| NG_034068.1:g.2263G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022823.3:c.670-71G>A MANE Select | NP_073734.1:n.670-71G>A |
| ENST00000264703.4:c.670-71G>A MANE Select | ENSP00000264703.3:n.670-71G>A |
| NM_022823.2:c.670-71G>A | NP_073734.1:n.670-71G>A |
| ENST00000264703.3:c.670-71G>A | ENSP00000264703.3:n.670-71G>A |
| ENST00000491414.5:n.1070-71G>A | |
| XM_005264499.2:c.545-71G>A | XP_005264556.1:n.545-71G>A |
| XM_005264499.4:c.545-71G>A | XP_005264556.1:n.545-71G>A |