Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768149G>C , CM000676.2:g.28768149G>C | GRCh38 |
| NC_000014.8:g.29237355G>C , CM000676.1:g.29237355G>C | GRCh37 |
| NC_000014.7:g.28307106G>C | NCBI36 |
| NG_009367.1:g.6069G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.870G>C | ENSP00000516406.1:p.Ala290= | |
| ENST00000313071.7:c.870G>C MANE Select | ENSP00000339004.3:p.Ala290= | |
| ENST00000313071.6:c.870G>C | ENSP00000339004.3:p.Ala290= | |
| NM_005249.4:c.870G>C | NP_005240.3:p.Ala290= | |
| NM_005249.5:c.870G>C MANE Select | NP_005240.3:p.Ala290= |