Linked Data
ClinVar Variation Id:
288262
dbSNP Id:
rs377369857
ExAC:
4:79430007 C / T
gnomAD v2:
4-79430007-C-T
gnomAD v3:
4-78508853-C-T
gnomAD v4:
4-78508853-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78508853C>T , CM000666.2:g.78508853C>T | GRCh38 |
| NC_000004.11:g.79430007C>T , CM000666.1:g.79430007C>T | GRCh37 |
| NC_000004.10:g.79649031C>T | NCBI36 |
| NG_015812.1:g.456284C>T | |
| NG_015812.2:g.456284C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.9627C>T | ENSP00000508201.1:p.Tyr3209= | |
| ENST00000512123.4:c.9627C>T MANE Select | ENSP00000422834.2:p.Tyr3209= | |
| ENST00000512123.3:c.9627C>T | ENSP00000422834.2:p.Tyr3209= | |
| NM_025074.6:c.9627C>T | NP_079350.5:p.Tyr3209= | |
| XM_006714314.1:c.9621C>T | XP_006714377.1:p.Tyr3207= | |
| XM_006714316.1:c.9399C>T | XP_006714379.1:p.Tyr3133= | |
| XM_011532270.1:c.7326C>T | XP_011530572.1:p.Tyr2442= | |
| XM_011532271.1:c.4515C>T | XP_011530573.1:p.Tyr1505= | |
| XM_006714316.3:c.9399C>T | XP_006714379.1:p.Tyr3133= | |
| NM_025074.7:c.9627C>T MANE Select | NP_079350.5:p.Tyr3209= |