Linked Data
dbSNP Id:
rs753907689
gnomAD v2:
2-113514044-C-G
gnomAD v3:
2-112756467-C-G
gnomAD v4:
2-112756467-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112756467C>G , CM000664.2:g.112756467C>G | GRCh38 |
| NC_000002.11:g.113514044C>G , CM000664.1:g.113514044C>G | GRCh37 |
| NC_000002.10:g.113230515C>G | NCBI36 |
| NG_041820.1:g.13211G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.904G>C MANE Select | ENSP00000305204.6:p.Asp302His | |
| ENST00000302450.10:c.904G>C | ENSP00000305204.6:p.Asp302His | |
| ENST00000435431.5:c.479-333G>C | ENSP00000414834.1:n.479-333G>C | |
| NM_001304361.1:c.409G>C | NP_001291290.1:p.Asp137His | |
| NM_152515.4:c.904G>C | NP_689728.3:p.Asp302His | |
| NR_130712.1:n.558-333G>C | ||
| XM_011510666.1:c.409G>C | XP_011508968.1:p.Asp137His | |
| XM_011510666.2:c.409G>C | XP_011508968.1:p.Asp137His | |
| NM_152515.5:c.904G>C MANE Select | NP_689728.3:p.Asp302His | |
| NM_001304361.2:c.409G>C | NP_001291290.1:p.Asp137His | |
| NR_130712.2:n.490-333G>C |