Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232542992C>T , CM000664.2:g.232542992C>T | GRCh38 |
| NC_000002.11:g.233407702C>T , CM000664.1:g.233407702C>T | GRCh37 |
| NC_000002.10:g.233115946C>T | NCBI36 |
| NG_012954.1:g.8266C>T | |
| NG_012954.2:g.8301C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005199.5:c.715C>T MANE Select | NP_005190.4:p.Arg239Cys |
| ENST00000651502.1:c.715C>T MANE Select | ENSP00000498757.1:p.Arg239Cys |
| NM_005199.4:c.715C>T | NP_005190.4:p.Arg239Cys |
| ENST00000389492.3:c.559C>T | ENSP00000374143.3:p.Arg187Cys |
| ENST00000389494.7:c.715C>T | ENSP00000374145.3:p.Arg239Cys |