Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439676A>C , CM000666.2:g.177439676A>C | GRCh38 |
| NC_000004.11:g.178360830A>C , CM000666.1:g.178360830A>C | GRCh37 |
| NC_000004.10:g.178597824A>C | NCBI36 |
| NG_011845.2:g.7828T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.294T>G MANE Select | ENSP00000264595.2:p.Asp98Glu | |
| ENST00000264595.6:c.294T>G | ENSP00000264595.2:p.Asp98Glu | |
| ENST00000506853.5:n.328T>G | ||
| ENST00000510955.5:n.315+597T>G | ||
| NM_000027.3:c.294T>G | NP_000018.2:p.Asp98Glu | |
| NM_001171988.1:c.294T>G | NP_001165459.1:p.Asp98Glu | |
| NR_033655.1:n.422T>G | ||
| XM_006714123.2:c.294T>G | XP_006714186.1:p.Asp98Glu | |
| XR_001741155.2:n.388T>G | ||
| NM_000027.4:c.294T>G MANE Select | NP_000018.2:p.Asp98Glu | |
| NM_001171988.2:c.294T>G | NP_001165459.1:p.Asp98Glu | |
| NR_033655.2:n.356T>G |