Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340173A>C , CM000667.2:g.146340173A>C | GRCh38 |
| NC_000005.9:g.145719736A>C , CM000667.1:g.145719736A>C | GRCh37 |
| NC_000005.8:g.145699929A>C | NCBI36 |
| NG_011885.1:g.6150A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.746A>C MANE Select | ENSP00000495718.1:p.Gln249Pro | |
| ENST00000230732.4:c.746A>C | ENSP00000230732.4:p.Gln249Pro | |
| NM_002700.2:c.746A>C | NP_002691.1:p.Gln249Pro | |
| NM_002700.3:c.746A>C MANE Select | NP_002691.1:p.Gln249Pro |