Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28496323C>G , CM000678.2:g.28496323C>G | GRCh38 |
| NC_000016.9:g.28507644C>G , CM000678.1:g.28507644C>G | GRCh37 |
| NC_000016.8:g.28415145C>G | NCBI36 |
| NG_008654.2:g.980G>C , LRG_689:g.980G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000564831.6:c.1282C>G MANE Select | ENSP00000457539.1:p.Pro428Ala | |
| ENST00000431282.2:c.1255C>G | ENSP00000416094.1:p.Pro419Ala | |
| ENST00000564831.5:c.1282C>G | ENSP00000457539.1:p.Pro428Ala | |
| NM_018690.3:c.1282C>G | NP_061160.3:p.Pro428Ala | |
| NM_018690.4:c.1282C>G MANE Select | NP_061160.3:p.Pro428Ala |