Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9741393T= , CM000685.2:g.9741393T= | GRCh38 |
| NC_000023.10:g.9709433T= , CM000685.1:g.9709433T= | GRCh37 |
| NC_000023.9:g.9669433T= | NCBI36 |
| NG_009074.1:g.29485A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467482.6:c.830A= MANE Select | ENSP00000417161.1:p.Asn277= | |
| ENST00000447366.5:c.578A= | ENSP00000390546.2:p.Asn193= | |
| ENST00000467482.5:c.830A= | ENSP00000417161.1:p.Asn277= | |
| NM_000273.2:c.830A= | NP_000264.2:p.Asn277= | |
| XM_005274541.2:c.830A= | XP_005274598.1:p.Asn277= | |
| XM_005274541.3:c.830A= | XP_005274598.1:p.Asn277= | |
| XM_024452387.1:c.578A= | XP_024308155.1:p.Asn193= | |
| XM_024452388.1:c.578A= | XP_024308156.1:p.Asn193= | |
| NM_000273.3:c.830A= MANE Select | NP_000264.2:p.Asn277= |