Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215799114A>G , CM000663.2:g.215799114A>G | GRCh38 |
| NC_000001.10:g.215972456A>G , CM000663.1:g.215972456A>G | GRCh37 |
| NC_000001.9:g.214039079A>G | NCBI36 |
| NG_009497.1:g.629283T>C | |
| NG_009497.2:g.629335T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9751T>C MANE Select | ENSP00000305941.3:p.Cys3251Arg | |
| ENST00000674083.1:c.9751T>C | ENSP00000501296.1:p.Cys3251Arg | |
| ENST00000307340.7:c.9751T>C | ENSP00000305941.3:p.Cys3251Arg | |
| NM_206933.2:c.9751T>C | NP_996816.2:p.Cys3251Arg | |
| NM_206933.3:c.9751T>C | NP_996816.2:p.Cys3251Arg | |
| NM_206933.4:c.9751T>C MANE Select | NP_996816.3:p.Cys3251Arg |