Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965920C= , CM000670.2:g.37965920C= | GRCh38 |
| NC_000008.10:g.37823438C= , CM000670.1:g.37823438C= | GRCh37 |
| NC_000008.9:g.37942595C= | NCBI36 |
| NG_011936.1:g.5747G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.550G= MANE Select | ENSP00000343782.3:p.Ala184= | |
| ENST00000520341.2:n.678G= | ||
| ENST00000647937.1:c.34G= | ENSP00000497740.1:p.Ala12= | |
| ENST00000345060.4:c.550G= | ENSP00000343782.3:p.Ala184= | |
| ENST00000614635.1:c.550G= | ENSP00000480325.1:p.Ala184= | |
| NM_000025.2:c.550G= | NP_000016.1:p.Ala184= | |
| NM_000025.3:c.550G= MANE Select | NP_000016.1:p.Ala184= |