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