Linked Data
ClinVar Variation Id:
3172135
ClinVar RCV Id:
RCV004461077
dbSNP Id:
rs746661731
ExAC:
12:56398123 G / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56004339G>T , CM000674.2:g.56004339G>T | GRCh38 |
| NC_000012.11:g.56398123G>T , CM000674.1:g.56398123G>T | GRCh37 |
| NC_000012.10:g.54684390G>T | NCBI36 |
| NG_008136.1:g.12081G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266971.8:c.950G>T MANE Select | ENSP00000266971.3:p.Cys317Phe | |
| ENST00000266971.7:c.950G>T | ENSP00000266971.3:p.Cys317Phe | |
| ENST00000356124.8:c.950G>T | ENSP00000348440.4:p.Cys317Phe | |
| ENST00000394109.7:c.950G>T | ENSP00000377668.3:p.Cys317Phe | |
| ENST00000394115.6:c.950G>T | ENSP00000377674.2:p.Cys317Phe | |
| ENST00000548274.5:c.950G>T | ENSP00000450245.1:p.Cys317Phe | |
| ENST00000550065.1:c.950G>T | ENSP00000450264.1:p.Cys317Phe | |
| ENST00000551841.6:c.*138G>T | ENSP00000449443.1:n.*138G>T | |
| NM_000456.2:c.950G>T | NP_000447.2:p.Cys317Phe | |
| NM_001032386.1:c.950G>T | NP_001027558.1:p.Cys317Phe | |
| NM_001032387.1:c.950G>T | NP_001027559.1:p.Cys317Phe | |
| XM_005269112.1:c.971G>T | XP_005269169.1:p.Cys324Phe | |
| XM_017019905.2:c.971G>T | XP_016875394.1:p.Cys324Phe | |
| XM_017019906.1:c.971G>T | XP_016875395.1:p.Cys324Phe | |
| XM_017019907.2:c.950G>T | XP_016875396.1:p.Cys317Phe | |
| XM_017019908.1:c.950G>T | XP_016875397.1:p.Cys317Phe | |
| XM_024449167.1:c.971G>T | XP_024304935.1:p.Cys324Phe | |
| NM_001032386.2:c.950G>T MANE Select | NP_001027558.1:p.Cys317Phe | |
| NM_000456.3:c.950G>T | NP_000447.2:p.Cys317Phe | |
| NM_001032387.2:c.950G>T | NP_001027559.1:p.Cys317Phe |