Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69119311C>G , CM000665.2:g.69119311C>G | GRCh38 |
| NC_000003.11:g.69168462C>G , CM000665.1:g.69168462C>G | GRCh37 |
| NC_000003.10:g.69251152C>G | NCBI36 |
| NG_041828.1:g.8285G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420581.7:c.1044G>C MANE Select | ENSP00000414670.3:p.Gln348His | |
| ENST00000420581.6:c.1044G>C | ENSP00000414670.2:p.Gln348His | |
| ENST00000475434.1:c.1044G>C | ENSP00000418645.1:p.Gln348His | |
| ENST00000489031.5:c.1044G>C | ENSP00000417210.1:p.Gln348His | |
| NM_001304418.1:c.1044G>C | NP_001291347.1:p.Gln348His | |
| NM_198271.4:c.1044G>C | NP_938012.2:p.Gln348His | |
| NM_001304418.3:c.1044G>C | NP_001291347.1:p.Gln348His | |
| NM_198271.5:c.1044G>C MANE Select | NP_938012.2:p.Gln348His |