Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.71781484G>C , CM000665.2:g.71781484G>C | GRCh38 |
| NC_000003.11:g.71830635G>C , CM000665.1:g.71830635G>C | GRCh37 |
| NC_000003.10:g.71913325G>C | NCBI36 |
| NG_008275.1:g.8723C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295619.4:c.205C>G MANE Select | ENSP00000295619.3:p.His69Asp | |
| ENST00000295619.3:c.205C>G | ENSP00000295619.3:p.His69Asp | |
| ENST00000353065.7:c.205C>G | ENSP00000295618.3:p.His69Asp | |
| NM_001126128.1:c.205C>G | NP_001119600.1:p.His69Asp | |
| NM_021935.3:c.205C>G | NP_068754.1:p.His69Asp | |
| XM_017006974.1:c.145C>G | XP_016862463.1:p.His49Asp | |
| NM_001126128.2:c.205C>G MANE Select | NP_001119600.1:p.His69Asp | |
| NM_021935.4:c.205C>G | NP_068754.1:p.His69Asp |