Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128345193G= , CM000671.2:g.128345193G= | GRCh38 |
| NC_000009.11:g.131107472G= , CM000671.1:g.131107472G= | GRCh37 |
| NC_000009.10:g.130147293G= | NCBI36 |
| NG_017057.1:g.9634G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300456.5:c.200G= MANE Select | ENSP00000300456.3:p.Arg67= | |
| ENST00000300456.4:c.200G= | ENSP00000300456.3:p.Arg67= | |
| ENST00000372870.5:c.231+1912G= | ENSP00000361961.1:n.231+1912G= | |
| NM_005094.3:c.200G= | NP_005085.2:p.Arg67= | |
| XM_017014222.1:c.200G= | XP_016869711.1:p.Arg67= | |
| XM_024447391.1:c.200G= | XP_024303159.1:p.Arg67= | |
| NM_005094.4:c.200G= MANE Select | NP_005085.2:p.Arg67= |