Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980342A>C , CM000667.2:g.149980342A>C | GRCh38 |
| NC_000005.9:g.149359905A>C , CM000667.1:g.149359905A>C | GRCh37 |
| NC_000005.8:g.149340098A>C | NCBI36 |
| NG_007147.2:g.21460A>C , LRG_684:g.21460A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.749A>C MANE Select | ENSP00000286298.4:p.Asp250Ala | |
| ENST00000286298.4:c.749A>C | ENSP00000286298.4:p.Asp250Ala | |
| ENST00000503336.1:c.372+1991A>C | ENSP00000426053.1:n.372+1991A>C | |
| NM_000112.3:c.749A>C , LRG_684t1:c.749A>C | NP_000103.2:p.Asp250Ala | |
| XM_017009191.2:c.749A>C | XP_016864680.1:p.Asp250Ala | |
| NM_000112.4:c.749A>C MANE Select | NP_000103.2:p.Asp250Ala |