Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146515831G>T , CM000667.2:g.146515831G>T | GRCh38 |
| NC_000005.9:g.145895394G>T , CM000667.1:g.145895394G>T | GRCh37 |
| NC_000005.8:g.145875587G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311104.3:c.283C>A MANE Select | ENSP00000308733.2:p.Arg95= | |
| ENST00000311104.2:c.283C>A | ENSP00000308733.2:p.Arg95= | |
| NM_194251.2:c.283C>A | NP_919227.2:p.Arg95= | |
| NM_194251.3:c.283C>A MANE Select | NP_919227.2:p.Arg95= |