Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128242017G>A , CM000669.2:g.128242017G>A | GRCh38 |
| NC_000007.13:g.127882070G>A , CM000669.1:g.127882070G>A | GRCh37 |
| NC_000007.12:g.127669306G>A | NCBI36 |
| NG_007450.1:g.5740G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000230.3:c.-29+711G>A MANE Select | NP_000221.1:n.-29+711G>A |
| ENST00000308868.5:c.-29+711G>A MANE Select | ENSP00000312652.4:n.-29+711G>A |
| NM_000230.2:c.-29+711G>A | NP_000221.1:n.-29+711G>A |
| ENST00000308868.4:c.-29+711G>A | ENSP00000312652.4:n.-29+711G>A |
| XM_005250340.3:c.-29+711G>A | XP_005250397.1:n.-29+711G>A |
| XM_005250340.5:c.-29+711G>A | XP_005250397.1:n.-29+711G>A |