Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233618225C= , CM000664.2:g.233618225C= | GRCh38 |
| NC_000002.11:g.234526871C= , CM000664.1:g.234526871C= | GRCh37 |
| NC_000002.10:g.234191610C= | NCBI36 |
| NG_002601.2:g.33482C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019076.5:c.518C= MANE Select | NP_061949.3:p.Ala173= |
| ENST00000373450.5:c.518C= MANE Select | ENSP00000362549.4:p.Ala173= |
| NM_019076.4:c.518C= | NP_061949.3:p.Ala173= |
| ENST00000373450.4:c.518C= | ENSP00000362549.4:p.Ala173= |