Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154154602T= , CM000685.2:g.154154602T= | GRCh38 |
| NC_000023.10:g.153420077T= , CM000685.1:g.153420077T= | GRCh37 |
| NC_000023.9:g.153073271T= | NCBI36 |
| NG_009105.2:g.15352T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369951.9:c.607T= MANE Select | ENSP00000358967.4:p.Cys203= | |
| ENST00000369951.8:c.607T= | ENSP00000358967.4:p.Cys203= | |
| ENST00000442922.1:c.196T= | ENSP00000402493.1:p.Cys66= | |
| ENST00000463296.1:n.588+1494T= | ||
| NM_020061.5:c.607T= | NP_064445.2:p.Cys203= | |
| NM_020061.6:c.607T= MANE Select | NP_064445.2:p.Cys203= |