Linked Data
dbSNP Id:
rs1279775350
gnomAD v2:
2-113514208-C-T
gnomAD v3:
2-112756631-C-T
gnomAD v4:
2-112756631-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112756631C>T , CM000664.2:g.112756631C>T | GRCh38 |
| NC_000002.11:g.113514208C>T , CM000664.1:g.113514208C>T | GRCh37 |
| NC_000002.10:g.113230679C>T | NCBI36 |
| NG_041820.1:g.13047G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.740G>A MANE Select | ENSP00000305204.6:p.Gly247Glu | |
| ENST00000302450.10:c.740G>A | ENSP00000305204.6:p.Gly247Glu | |
| ENST00000435431.5:c.478+262G>A | ENSP00000414834.1:n.478+262G>A | |
| NM_001304361.1:c.245G>A | NP_001291290.1:p.Gly82Glu | |
| NM_152515.4:c.740G>A | NP_689728.3:p.Gly247Glu | |
| NR_130712.1:n.557+262G>A | ||
| XM_011510666.1:c.245G>A | XP_011508968.1:p.Gly82Glu | |
| XM_011510666.2:c.245G>A | XP_011508968.1:p.Gly82Glu | |
| NM_152515.5:c.740G>A MANE Select | NP_689728.3:p.Gly247Glu | |
| NM_001304361.2:c.245G>A | NP_001291290.1:p.Gly82Glu | |
| NR_130712.2:n.489+262G>A |