Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7933925G= , CM000681.2:g.7933925G= | GRCh38 |
| NC_000019.9:g.7998810G= , CM000681.1:g.7998810G= | GRCh37 |
| NC_000019.8:g.7904810G= | NCBI36 |
| NG_051180.1:g.14899C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.622C= MANE Select | ENSP00000270538.2:p.Arg208= | |
| ENST00000270538.7:c.622C= | ENSP00000270538.2:p.Arg208= | |
| ENST00000595831.5:c.609C= | ||
| ENST00000595876.5:c.*310C= | ENSP00000471596.1:n.*310C= | |
| ENST00000597926.1:c.526C= | ENSP00000469389.1:p.Arg176= | |
| ENST00000598675.1:n.28C= | ||
| ENST00000600748.5:n.607C= | ||
| NM_006351.3:c.622C= | NP_006342.2:p.Arg208= | |
| NM_006351.4:c.622C= MANE Select | NP_006342.2:p.Arg208= |