Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17376327G>A , CM000685.2:g.17376327G>A | GRCh38 |
| NC_000023.10:g.17394450G>A , CM000685.1:g.17394450G>A | GRCh37 |
| NC_000023.9:g.17304371G>A | NCBI36 |
| NG_011553.2:g.5908G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676302.1:c.565+5G>A MANE Select | ENSP00000502262.1:n.565+5G>A | |
| ENST00000380060.7:c.565+5G>A | ENSP00000369400.3:n.565+5G>A | |
| NM_001291867.1:c.565+5G>A | NP_001278796.1:n.565+5G>A | |
| NM_198270.3:c.565+5G>A | NP_938011.1:n.565+5G>A | |
| NM_001291867.2:c.565+5G>A MANE Select | NP_001278796.1:n.565+5G>A | |
| NM_198270.4:c.565+5G>A | NP_938011.1:n.565+5G>A |