Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42732532G>C , CM000670.2:g.42732532G>C | GRCh38 |
| NC_000008.10:g.42587675G>C , CM000670.1:g.42587675G>C | GRCh37 |
| NC_000008.9:g.42706832G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289957.3:c.1225G>C MANE Select | ENSP00000289957.2:p.Glu409Gln | |
| ENST00000289957.2:c.1225G>C | ENSP00000289957.2:p.Glu409Gln | |
| NM_000749.3:c.1225G>C | NP_000740.1:p.Glu409Gln | |
| XM_011544390.1:c.838G>C | XP_011542692.1:p.Glu280Gln | |
| NM_000749.4:c.1225G>C | NP_000740.1:p.Glu409Gln | |
| NM_001347717.1:c.1003G>C | NP_001334646.1:p.Glu335Gln | |
| XM_011544390.2:c.838G>C | XP_011542692.1:p.Glu280Gln | |
| NM_000749.5:c.1225G>C MANE Select | NP_000740.1:p.Glu409Gln | |
| NM_001347717.2:c.1003G>C | NP_001334646.1:p.Glu335Gln |