Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10707416G= , CM000681.2:g.10707416G= | GRCh38 |
| NC_000019.9:g.10818092G= , CM000681.1:g.10818092G= | GRCh37 |
| NC_000019.8:g.10679092G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031209.3:c.530+36G= MANE Select | NP_112486.1:n.530+36G= |
| ENST00000250237.10:c.530+36G= MANE Select | ENSP00000250237.4:n.530+36G= |
| NM_031209.2:c.530+36G= | NP_112486.1:n.530+36G= |
| ENST00000250237.9:c.530+36G= | ENSP00000250237.4:n.530+36G= |
| ENST00000421333.6:c.530+36G= | ENSP00000389126.2:n.530+36G= |
| ENST00000585885.5:n.537+36G= | |
| ENST00000587599.5:c.641+36G= | |
| ENST00000589488.5:n.561+36G= | |
| ENST00000590705.5:n.634+36G= | |
| ENST00000591643.1:c.75+36G= | |
| ENST00000592254.1:c.475+36G= |