Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130668259G>T , CM000671.2:g.130668259G>T | GRCh38 |
| NC_000009.11:g.133543646G>T , CM000671.1:g.133543646G>T | GRCh37 |
| NC_000009.10:g.132533467G>T | NCBI36 |
| NG_053081.1:g.8666G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021619.3:c.516G>T MANE Select | NP_067632.2:p.Glu172Asp |
| ENST00000253008.3:c.516G>T MANE Select | ENSP00000253008.2:p.Glu172Asp |
| NM_021619.2:c.516G>T | NP_067632.2:p.Glu172Asp |
| ENST00000253008.2:c.516G>T | ENSP00000253008.2:p.Glu172Asp |
| ENST00000676323.1:c.516G>T | ENSP00000502471.1:p.Glu172Asp |