Linked Data
dbSNP Id:
rs1300303647
gnomAD v2:
2-113514469-C-T
gnomAD v3:
2-112756892-C-T
gnomAD v4:
2-112756892-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112756892C>T , CM000664.2:g.112756892C>T | GRCh38 |
| NC_000002.11:g.113514469C>T , CM000664.1:g.113514469C>T | GRCh37 |
| NC_000002.10:g.113230940C>T | NCBI36 |
| NG_041820.1:g.12786G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.479G>A MANE Select | ENSP00000305204.6:p.Gly160Asp | |
| ENST00000302450.10:c.479G>A | ENSP00000305204.6:p.Gly160Asp | |
| ENST00000435431.5:c.478+1G>A | ENSP00000414834.1:n.478+1G>A | |
| ENST00000481732.5:n.440G>A | ||
| NM_001304361.1:c.-17G>A | NP_001291290.1:n.-17G>A | |
| NM_152515.4:c.479G>A | NP_689728.3:p.Gly160Asp | |
| NR_130712.1:n.557+1G>A | ||
| XM_011510666.1:c.-17G>A | XP_011508968.1:n.-17G>A | |
| XM_011510666.2:c.-17G>A | XP_011508968.1:n.-17G>A | |
| NM_152515.5:c.479G>A MANE Select | NP_689728.3:p.Gly160Asp | |
| NM_001304361.2:c.-17G>A | NP_001291290.1:n.-17G>A | |
| NR_130712.2:n.489+1G>A |