Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.28863878T>C , CM000663.2:g.28863878T>C | GRCh38 |
| NC_000001.10:g.29190390T>C , CM000663.1:g.29190390T>C | GRCh37 |
| NC_000001.9:g.29062977T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000911.4:c.*595T>C MANE Select | NP_000902.3:n.*595T>C |
| ENST00000234961.7:c.*595T>C MANE Select | ENSP00000234961.2:n.*595T>C |
| ENST00000234961.6:c.*595T>C | ENSP00000234961.2:n.*595T>C |