Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191953T= , CM000666.2:g.186191953T= | GRCh38 |
| NC_000004.11:g.187113107T= , CM000666.1:g.187113107T= | GRCh37 |
| NC_000004.10:g.187350101T= | NCBI36 |
| NG_007965.1:g.5434T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207352.4:c.130T= MANE Select | NP_997235.3:p.Trp44= |
| ENST00000378802.5:c.130T= MANE Select | ENSP00000368079.4:p.Trp44= |
| NM_207352.3:c.130T= | NP_997235.3:p.Trp44= |
| ENST00000378802.4:c.130T= | ENSP00000368079.4:p.Trp44= |
| XM_005262935.2:c.130T= | XP_005262992.1:p.Trp44= |
| XM_005262935.4:c.130T= | XP_005262992.1:p.Trp44= |
| XM_017008037.1:c.-181T= | XP_016863526.1:n.-181T= |