Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996120T= , CM000663.2:g.196996120T= | GRCh38 |
| NC_000001.10:g.196965250T= , CM000663.1:g.196965250T= | GRCh37 |
| NC_000001.9:g.195231873T= | NCBI36 |
| NG_016365.1:g.23584T= , LRG_227:g.23584T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.634T= | ENSP00000514393.1:p.Cys212= | |
| ENST00000699467.1:n.958T= | ||
| ENST00000699468.1:c.-18T= | ENSP00000514394.1:n.-18T= | |
| ENST00000256785.5:c.889T= MANE Select | ENSP00000256785.4:p.Cys297= | |
| ENST00000256785.4:c.889T= | ENSP00000256785.4:p.Cys297= | |
| NM_030787.3:c.889T= , LRG_227t1:c.889T= | NP_110414.1:p.Cys297= | |
| XM_011510020.1:c.898T= | XP_011508322.1:p.Cys300= | |
| XM_011510020.2:c.898T= | XP_011508322.1:p.Cys300= | |
| NM_030787.4:c.889T= MANE Select | NP_110414.1:p.Cys297= |