Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190402444G>A , CM000665.2:g.190402444G>A | GRCh38 |
| NC_000003.11:g.190120233G>A , CM000665.1:g.190120233G>A | GRCh37 |
| NC_000003.10:g.191602927G>A | NCBI36 |
| NG_008149.1:g.19393G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006580.4:c.217+5G>A MANE Select | NP_006571.2:n.217+5G>A |
| ENST00000264734.3:c.217+5G>A MANE Select | ENSP00000264734.3:n.217+5G>A |
| NM_001378492.1:c.217+5G>A | NP_001365421.1:n.217+5G>A |
| NM_001378493.1:c.217+5G>A | NP_001365422.1:n.217+5G>A |
| NM_006580.3:c.427+5G>A | NP_006571.1:n.427+5G>A |
| ENST00000264734.2:c.427+5G>A | ENSP00000264734.2:n.427+5G>A |
| ENST00000456423.1:c.325-7459G>A | ENSP00000414136.1:n.325-7459G>A |
| ENST00000456423.2:c.115-7459G>A | ENSP00000414136.2:n.115-7459G>A |
| ENST00000468220.1:n.409+5G>A |