Linked Data
ClinVar Variation Id:
435095
dbSNP Id:
rs1555762722
gnomAD v4:
19-43511460-C-T
PubMed:
PMID:28933811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43511460C>T , CM000681.2:g.43511460C>T | GRCh38 |
| NC_000019.9:g.44015612C>T , CM000681.1:g.44015612C>T | GRCh37 |
| NC_000019.8:g.48707452C>T | NCBI36 |
| NG_008141.1:g.20785G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.482G>A MANE Select | ENSP00000292147.1:p.Cys161Tyr | |
| ENST00000292147.6:c.482G>A | ENSP00000292147.1:p.Cys161Tyr | |
| ENST00000594342.5:c.*45G>A | ENSP00000469652.1:n.*45G>A | |
| ENST00000598330.1:c.*45G>A | ENSP00000469219.1:n.*45G>A | |
| ENST00000600651.5:c.482G>A | ENSP00000469037.1:p.Cys161Tyr | |
| NM_014297.3:c.482G>A | NP_055112.2:p.Cys161Tyr | |
| XM_005258687.2:c.401G>A | XP_005258744.1:p.Cys134Tyr | |
| XM_005258688.2:c.113G>A | XP_005258745.1:p.Cys38Tyr | |
| XM_011526685.1:c.227-2596G>A | XP_011524987.1:n.227-2596G>A | |
| NM_001320867.1:c.449G>A | NP_001307796.1:p.Cys150Tyr | |
| NM_001320868.1:c.113G>A | NP_001307797.1:p.Cys38Tyr | |
| NM_001320869.1:c.188G>A | NP_001307798.1:p.Cys63Tyr | |
| NM_014297.4:c.482G>A | NP_055112.2:p.Cys161Tyr | |
| XM_005258687.4:c.401G>A | XP_005258744.1:p.Cys134Tyr | |
| NM_014297.5:c.482G>A MANE Select | NP_055112.2:p.Cys161Tyr | |
| NM_001320867.2:c.449G>A | NP_001307796.1:p.Cys150Tyr | |
| NM_001320868.2:c.113G>A | NP_001307797.1:p.Cys38Tyr | |
| NM_001320869.2:c.188G>A | NP_001307798.1:p.Cys63Tyr |