Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42962988A>C , CM000666.2:g.42962988A>C | GRCh38 |
| NC_000004.11:g.42965005A>C , CM000666.1:g.42965005A>C | GRCh37 |
| NC_000004.10:g.42659762A>C | NCBI36 |
| NG_027718.1:g.74723A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.481A>C MANE Select | ENSP00000382670.2:p.Lys161Gln | |
| ENST00000399770.2:c.481A>C | ENSP00000382670.2:p.Lys161Gln | |
| NM_001080476.2:c.481A>C | NP_001073945.1:p.Lys161Gln | |
| XM_011513691.1:c.118A>C | XP_011511993.1:p.Lys40Gln | |
| NM_001080476.3:c.481A>C MANE Select | NP_001073945.1:p.Lys161Gln |