Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109867747C>A , CM000666.2:g.109867747C>A | GRCh38 |
| NC_000004.11:g.110788903C>A , CM000666.1:g.110788903C>A | GRCh37 |
| NC_000004.10:g.111008352C>A | NCBI36 |
| NG_033249.1:g.24564C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198506.5:c.696C>A MANE Select | NP_940908.3:p.Cys232Ter |
| ENST00000594814.6:c.696C>A MANE Select | ENSP00000469759.1:p.Cys232Ter |
| NM_198506.4:c.696C>A | NP_940908.3:p.Cys232Ter |
| ENST00000327908.3:c.147C>A | ENSP00000328222.3:p.Cys49Ter |
| ENST00000594814.5:c.696C>A | ENSP00000469759.1:p.Cys232Ter |
| XM_005262979.2:c.147C>A | XP_005263036.1:p.Cys49Ter |
| XM_017008167.1:c.147C>A | XP_016863656.1:p.Cys49Ter |