Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060155A>C , CM000665.2:g.184060155A>C | GRCh38 |
| NC_000003.11:g.183777943A>C , CM000665.1:g.183777943A>C | GRCh37 |
| NC_000003.10:g.185260637A>C | NCBI36 |
| NG_012749.1:g.12109A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318351.2:c.1147A>C MANE Select | ENSP00000322617.1:p.Lys383Gln | |
| ENST00000318351.1:c.1147A>C | ENSP00000322617.1:p.Lys383Gln | |
| NM_130770.2:c.1147A>C | NP_570126.2:p.Lys383Gln | |
| NM_130770.3:c.1147A>C MANE Select | NP_570126.2:p.Lys383Gln |