Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016100G= , CM000681.2:g.49016100G= | GRCh38 |
| NC_000019.9:g.49519357G= , CM000681.1:g.49519357G= | GRCh37 |
| NC_000019.8:g.54211169G= | NCBI36 |
| NG_011464.1:g.5991C= | |
| NG_033041.1:g.27202G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.394C= MANE Select | ENSP00000497294.2:p.His132= | |
| ENST00000649284.1:n.485C= | ||
| ENST00000221421.6:c.394C= | ENSP00000221421.1:p.His132= | |
| ENST00000391869.4:c.388C= | ENSP00000375742.4:p.His130= | |
| NM_000894.2:c.394C= | NP_000885.1:p.His132= | |
| XM_011526975.1:c.442C= | XP_011525277.1:p.His148= | |
| NM_000894.3:c.394C= MANE Select | NP_000885.1:p.His132= |