Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016013G= , CM000681.2:g.49016013G= | GRCh38 |
| NC_000019.9:g.49519270G= , CM000681.1:g.49519270G= | GRCh37 |
| NC_000019.8:g.54211082G= | NCBI36 |
| NG_011464.1:g.6078C= | |
| NG_033041.1:g.27115G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.*55C= MANE Select | ENSP00000497294.2:n.*55C= | |
| ENST00000221421.6:c.481C= | ENSP00000221421.1:n.481C= | |
| NM_000894.2:c.*55C= | NP_000885.1:n.*55C= | |
| XM_011526975.1:c.*55C= | XP_011525277.1:n.*55C= | |
| NM_000894.3:c.*55C= MANE Select | NP_000885.1:n.*55C= |