Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.90613258C>A , CM000671.2:g.90613258C>A | GRCh38 |
| NC_000009.11:g.93375540C>A , CM000671.1:g.93375540C>A | GRCh37 |
| NC_000009.10:g.92415360C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017594.5:c.570G>T MANE Select | NP_060064.2:p.Glu190Asp |
| ENST00000375765.5:c.570G>T MANE Select | ENSP00000364919.3:p.Glu190Asp |
| NM_017594.4:c.570G>T | NP_060064.2:p.Glu190Asp |
| ENST00000375765.3:c.570G>T | ENSP00000364919.3:p.Glu190Asp |