Linked Data
dbSNP Id:
rs1881437690
gnomAD v3:
14-20457178-A-G
gnomAD v4:
14-20457178-A-G
MyVariant Identifiers:
chr14:g.20925337A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20457178A>G , CM000676.2:g.20457178A>G | GRCh38 |
| NC_000014.8:g.20925337A>G , CM000676.1:g.20925337A>G | GRCh37 |
| NC_000014.7:g.19995177A>G | NCBI36 |
| NG_008718.1:g.7048A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.627A>G MANE Select | ENSP00000216714.3:p.Gly209= | |
| ENST00000216714.7:c.627A>G | ENSP00000216714.3:p.Gly209= | |
| ENST00000398030.8:c.627A>G | ENSP00000381111.4:p.Gly209= | |
| ENST00000438886.1:c.407A>G | ||
| ENST00000553555.5:n.1047A>G | ||
| ENST00000553681.5:c.627A>G | ENSP00000451327.1:p.Gly209= | |
| ENST00000555414.5:c.627A>G | ENSP00000451979.1:p.Gly209= | |
| ENST00000555839.5:c.540A>G | ENSP00000452460.1:p.Gly180= | |
| ENST00000557054.1:c.*38A>G | ENSP00000452212.2:n.*38A>G | |
| ENST00000557159.5:n.1243A>G | ||
| ENST00000557365.1:n.707A>G | ||
| NM_001244249.1:c.627A>G | NP_001231178.1:p.Gly209= | |
| NM_001641.3:c.627A>G | NP_001632.2:p.Gly209= | |
| NM_080648.2:c.627A>G | NP_542379.1:p.Gly209= | |
| NM_080649.2:c.627A>G | NP_542380.1:p.Gly209= | |
| XM_005267581.3:c.627A>G | XP_005267638.1:p.Gly209= | |
| XM_005267582.3:c.576A>G | XP_005267639.1:p.Gly192= | |
| NM_001641.4:c.627A>G MANE Select | NP_001632.2:p.Gly209= | |
| NM_001244249.2:c.627A>G | NP_001231178.1:p.Gly209= | |
| NM_080648.3:c.627A>G | NP_542379.1:p.Gly209= | |
| NM_080649.3:c.627A>G | NP_542380.1:p.Gly209= |