Linked Data
dbSNP Id:
rs138515445
ExAC:
8:42587665 T / G
gnomAD v2:
8-42587665-T-G
gnomAD v3:
8-42732522-T-G
gnomAD v4:
8-42732522-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42732522T>G , CM000670.2:g.42732522T>G | GRCh38 |
| NC_000008.10:g.42587665T>G , CM000670.1:g.42587665T>G | GRCh37 |
| NC_000008.9:g.42706822T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289957.3:c.1215T>G MANE Select | ENSP00000289957.2:p.His405Gln | |
| ENST00000289957.2:c.1215T>G | ENSP00000289957.2:p.His405Gln | |
| NM_000749.3:c.1215T>G | NP_000740.1:p.His405Gln | |
| XM_011544390.1:c.828T>G | XP_011542692.1:p.His276Gln | |
| NM_000749.4:c.1215T>G | NP_000740.1:p.His405Gln | |
| NM_001347717.1:c.993T>G | NP_001334646.1:p.His331Gln | |
| XM_011544390.2:c.828T>G | XP_011542692.1:p.His276Gln | |
| NM_000749.5:c.1215T>G MANE Select | NP_000740.1:p.His405Gln | |
| NM_001347717.2:c.993T>G | NP_001334646.1:p.His331Gln |