Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703346C= , CM000681.2:g.48703346C= | GRCh38 |
| NC_000019.9:g.49206603C= , CM000681.1:g.49206603C= | GRCh37 |
| NC_000019.8:g.53898415C= | NCBI36 |
| NG_007511.1:g.12376C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000511.6:c.390C= MANE Select | NP_000502.4:p.Asn130= |
| ENST00000425340.3:c.390C= MANE Select | ENSP00000387498.2:p.Asn130= |
| NM_000511.5:c.390C= | NP_000502.4:p.Asn130= |
| NM_001097638.2:c.390C= | NP_001091107.1:p.Asn130= |
| NM_001097638.3:c.390C= | NP_001091107.1:p.Asn130= |
| NR_131188.1:n.503G= | |
| ENST00000391876.5:c.390C= | ENSP00000375748.4:p.Asn130= |
| ENST00000425340.2:c.390C= | ENSP00000387498.2:p.Asn130= |
| ENST00000522966.1:c.390C= | ENSP00000430227.1:p.Asn130= |
| ENST00000522966.2:c.390C= | ENSP00000430227.2:p.Asn130= |