Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6224714G= , CM000668.2:g.6224714G= | GRCh38 |
| NC_000006.11:g.6224947G= , CM000668.1:g.6224947G= | GRCh37 |
| NC_000006.10:g.6169946G= | NCBI36 |
| NG_008107.1:g.100978C= , LRG_549:g.100978C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.945C= MANE Select | ENSP00000264870.3:p.Cys315= | |
| ENST00000264870.7:c.945C= | ENSP00000264870.3:p.Cys315= | |
| ENST00000445223.1:c.95C= | ||
| NM_000129.3:c.945C= , LRG_549t1:c.945C= | NP_000120.2:p.Cys315= | |
| XM_006715010.2:c.945C= | XP_006715073.1:p.Cys315= | |
| XM_011514342.1:c.1107C= | XP_011512644.1:p.Cys369= | |
| NM_000129.4:c.945C= MANE Select | NP_000120.2:p.Cys315= |