Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.15690162C>T , CM000684.2:g.15690162C>T | GRCh38 |
| NC_000022.10:g.16287801G>A , CM000684.1:g.16287801G>A | GRCh37 |
| NC_000022.9:g.14667801G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001136213.1:c.85C>T MANE Select | NP_001129685.1:p.Arg29Cys |
| ENST00000343518.11:c.85C>T MANE Select | ENSP00000340610.6:p.Arg29Cys |
| ENST00000343518.10:c.85C>T | ENSP00000340610.6:p.Arg29Cys |
| ENST00000621704.4:c.85C>T | ENSP00000477748.1:p.Arg29Cys |