Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.39690591G>A , CM000669.2:g.39690591G>A | GRCh38 |
| NC_000007.13:g.39730190G>A , CM000669.1:g.39730190G>A | GRCh37 |
| NC_000007.12:g.39696715G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005402.4:c.323+1G>A MANE Select | NP_005393.2:n.323+1G>A |
| ENST00000005257.7:c.323+1G>A MANE Select | ENSP00000005257.2:n.323+1G>A |
| NM_005402.3:c.323+1G>A | NP_005393.2:n.323+1G>A |
| ENST00000005257.6:c.323+1G>A | ENSP00000005257.2:n.323+1G>A |
| ENST00000434466.1:c.304+1G>A | |
| ENST00000468201.1:n.262-6094G>A | |
| XM_006715762.2:c.323+1G>A | XP_006715825.1:n.323+1G>A |
| XM_006715762.3:c.323+1G>A | XP_006715825.1:n.323+1G>A |
| XM_011515466.1:c.323+1G>A | XP_011513768.1:n.323+1G>A |