Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21852536C>T , CM000669.2:g.21852536C>T | GRCh38 |
| NC_000007.13:g.21892154C>T , CM000669.1:g.21892154C>T | GRCh37 |
| NC_000007.12:g.21858679C>T | NCBI36 |
| NG_012886.2:g.314322C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.10966C>T MANE Select | NP_001264044.1:p.Arg3656Cys |
| ENST00000409508.8:c.10966C>T MANE Select | ENSP00000475939.1:p.Arg3656Cys |
| NM_001277115.1:c.10966C>T | NP_001264044.1:p.Arg3656Cys |
| ENST00000328843.10:c.10987C>T | ENSP00000330671.7:p.Arg3663Cys |
| ENST00000409508.7:c.10966C>T | ENSP00000475939.1:p.Arg3656Cys |
| ENST00000421290.1:n.149C>T | |
| ENST00000607413.5:n.229C>T | |
| ENST00000620169.4:c.10987C>T | ENSP00000481693.1:p.Arg3663Cys |