Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439676A= , CM000666.2:g.177439676A= | GRCh38 |
| NC_000004.11:g.178360830A= , CM000666.1:g.178360830A= | GRCh37 |
| NC_000004.10:g.178597824A= | NCBI36 |
| NG_011845.2:g.7828T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.294T= MANE Select | ENSP00000264595.2:p.Asp98= | |
| ENST00000264595.6:c.294T= | ENSP00000264595.2:p.Asp98= | |
| ENST00000506853.5:n.328T= | ||
| ENST00000510955.5:n.315+597T= | ||
| NM_000027.3:c.294T= | NP_000018.2:p.Asp98= | |
| NM_001171988.1:c.294T= | NP_001165459.1:p.Asp98= | |
| NR_033655.1:n.422T= | ||
| XM_006714123.2:c.294T= | XP_006714186.1:p.Asp98= | |
| XR_001741155.2:n.388T= | ||
| NM_000027.4:c.294T= MANE Select | NP_000018.2:p.Asp98= | |
| NM_001171988.2:c.294T= | NP_001165459.1:p.Asp98= | |
| NR_033655.2:n.356T= |