Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33669005C>G , CM000668.2:g.33669005C>G | GRCh38 |
| NC_000006.11:g.33636782C>G , CM000668.1:g.33636782C>G | GRCh37 |
| NC_000006.10:g.33744760C>G | NCBI36 |
| NG_027729.1:g.52627C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605930.3:c.2038C>G MANE Select | ENSP00000475177.1:p.His680Asp | |
| ENST00000374316.9:c.2038C>G | ENSP00000363435.4:p.His680Asp | |
| ENST00000605930.2:c.2038C>G | ENSP00000475177.1:p.His680Asp | |
| NM_002224.3:c.2038C>G | NP_002215.2:p.His680Asp | |
| XM_011514576.1:c.2107C>G | XP_011512878.1:p.His703Asp | |
| XM_011514577.1:c.1855C>G | XP_011512879.1:p.His619Asp | |
| XM_011514577.3:c.1855C>G | XP_011512879.1:p.His619Asp | |
| XM_017010832.1:c.2038C>G | XP_016866321.1:p.His680Asp | |
| NM_002224.4:c.2038C>G MANE Select | NP_002215.2:p.His680Asp |