Linked Data
ClinVar Variation Id:
50215
dbSNP Id:
rs397515440
ExAC:
14:32068516 G / T
gnomAD v2:
14-32068516-G-T
gnomAD v3:
14-31599310-G-T
gnomAD v4:
14-31599310-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.31599310G>T , CM000676.2:g.31599310G>T | GRCh38 |
| NC_000014.8:g.32068516G>T , CM000676.1:g.32068516G>T | GRCh37 |
| NC_000014.7:g.31138267G>T | NCBI36 |
| NG_028349.1:g.42926G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281081.12:c.313G>T MANE Select | ENSP00000281081.7:p.Asp105Tyr | |
| ENST00000281081.11:c.313G>T | ENSP00000281081.7:p.Asp105Tyr | |
| ENST00000547839.5:c.313G>T | ENSP00000449918.1:p.Asp105Tyr | |
| ENST00000548937.5:n.317G>T | ||
| ENST00000549838.5:c.277G>T | ENSP00000447658.1:p.Asp93Tyr | |
| ENST00000550355.1:n.262G>T | ||
| ENST00000550649.5:c.291+34262G>T | ENSP00000447618.1:n.291+34262G>T | |
| ENST00000551314.1:c.157G>T | ENSP00000447234.1:p.Asp53Tyr | |
| ENST00000552489.5:c.407G>T | ENSP00000447316.1:n.407G>T | |
| NM_001201573.1:c.25G>T | NP_001188502.1:p.Asp9Tyr | |
| NM_025152.2:c.313G>T | NP_079428.2:p.Asp105Tyr | |
| NR_120408.1:n.368G>T | ||
| XM_005268099.3:c.313G>T | XP_005268156.1:p.Asp105Tyr | |
| XM_011537181.1:c.38G>T | XP_011535483.1:p.Arg13Ile | |
| XM_011537182.1:c.-143G>T | XP_011535484.1:n.-143G>T | |
| XM_011537183.1:c.313G>T | XP_011535485.1:p.Asp105Tyr | |
| XM_011537181.2:c.38G>T | XP_011535483.1:p.Arg13Ile | |
| XM_011537182.2:c.-143G>T | XP_011535484.1:n.-143G>T | |
| XM_011537183.2:c.313G>T | XP_011535485.1:p.Asp105Tyr | |
| XM_017021664.1:c.313G>T | XP_016877153.1:p.Asp105Tyr | |
| XM_017021665.2:c.313G>T | XP_016877154.1:p.Asp105Tyr | |
| XM_017021666.1:c.313G>T | XP_016877155.1:p.Asp105Tyr | |
| XM_017021667.1:c.-71G>T | XP_016877156.1:n.-71G>T | |
| NM_025152.3:c.313G>T MANE Select | NP_079428.2:p.Asp105Tyr | |
| NR_120408.2:n.349G>T | ||
| NM_001201573.2:c.25G>T | NP_001188502.1:p.Asp9Tyr |