Linked Data
dbSNP Id:
rs773843765
ExAC:
14:20924849 A / T
gnomAD v2:
14-20924849-A-T
gnomAD v3:
14-20456690-A-T
gnomAD v4:
14-20456690-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20456690A>T , CM000676.2:g.20456690A>T | GRCh38 |
| NC_000014.8:g.20924849A>T , CM000676.1:g.20924849A>T | GRCh37 |
| NC_000014.7:g.19994689A>T | NCBI36 |
| NG_008718.1:g.6560A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.269A>T MANE Select | ENSP00000216714.3:p.Asp90Val | |
| ENST00000216714.7:c.269A>T | ENSP00000216714.3:p.Asp90Val | |
| ENST00000398030.8:c.269A>T | ENSP00000381111.4:p.Asp90Val | |
| ENST00000438886.1:c.118A>T | ||
| ENST00000553555.5:n.689A>T | ||
| ENST00000553681.5:c.269A>T | ENSP00000451327.1:p.Asp90Val | |
| ENST00000554813.5:n.335A>T | ||
| ENST00000555306.5:n.716A>T | ||
| ENST00000555414.5:c.269A>T | ENSP00000451979.1:p.Asp90Val | |
| ENST00000555839.5:c.269A>T | ENSP00000452460.1:p.Asp90Val | |
| ENST00000556054.5:c.269A>T | ENSP00000451170.1:p.Asp90Val | |
| ENST00000557054.1:c.28-433A>T | ENSP00000452212.2:n.28-433A>T | |
| ENST00000557150.5:c.218A>T | ENSP00000452418.1:p.Asp73Val | |
| ENST00000557159.5:n.885A>T | ||
| ENST00000557181.5:c.269A>T | ENSP00000452304.1:p.Asp90Val | |
| ENST00000557344.5:c.269A>T | ENSP00000452137.1:p.Asp90Val | |
| ENST00000557365.1:n.349A>T | ||
| ENST00000557592.5:c.218A>T | ENSP00000451060.1:p.Asp73Val | |
| NM_001244249.1:c.269A>T | NP_001231178.1:p.Asp90Val | |
| NM_001641.3:c.269A>T | NP_001632.2:p.Asp90Val | |
| NM_080648.2:c.269A>T | NP_542379.1:p.Asp90Val | |
| NM_080649.2:c.269A>T | NP_542380.1:p.Asp90Val | |
| XM_005267581.3:c.269A>T | XP_005267638.1:p.Asp90Val | |
| XM_005267582.3:c.218A>T | XP_005267639.1:p.Asp73Val | |
| NM_001641.4:c.269A>T MANE Select | NP_001632.2:p.Asp90Val | |
| NM_001244249.2:c.269A>T | NP_001231178.1:p.Asp90Val | |
| NM_080648.3:c.269A>T | NP_542379.1:p.Asp90Val | |
| NM_080649.3:c.269A>T | NP_542380.1:p.Asp90Val |