Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439678C>G , CM000666.2:g.177439678C>G | GRCh38 |
| NC_000004.11:g.178360832C>G , CM000666.1:g.178360832C>G | GRCh37 |
| NC_000004.10:g.178597826C>G | NCBI36 |
| NG_011845.2:g.7826G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.292G>C MANE Select | ENSP00000264595.2:p.Asp98His | |
| ENST00000264595.6:c.292G>C | ENSP00000264595.2:p.Asp98His | |
| ENST00000506853.5:n.326G>C | ||
| ENST00000510955.5:n.315+595G>C | ||
| NM_000027.3:c.292G>C | NP_000018.2:p.Asp98His | |
| NM_001171988.1:c.292G>C | NP_001165459.1:p.Asp98His | |
| NR_033655.1:n.420G>C | ||
| XM_006714123.2:c.292G>C | XP_006714186.1:p.Asp98His | |
| XR_001741155.2:n.386G>C | ||
| NM_000027.4:c.292G>C MANE Select | NP_000018.2:p.Asp98His | |
| NM_001171988.2:c.292G>C | NP_001165459.1:p.Asp98His | |
| NR_033655.2:n.354G>C |