Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.122995119A= , CM000669.2:g.122995119A= | GRCh38 |
| NC_000007.13:g.122635173A= , CM000669.1:g.122635173A= | GRCh37 |
| NC_000007.12:g.122422409A= | NCBI36 |
| NG_011980.1:g.5582T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016945.3:c.516T= MANE Select | NP_058641.1:p.Asn172= |
| ENST00000249284.3:c.516T= MANE Select | ENSP00000249284.2:p.Asn172= |
| NM_016945.2:c.516T= | NP_058641.1:p.Asn172= |